NCIt Code NCIt PT NICHD NRNT PT NICHD NRNT SY NCIt Definition NICHD Definition NCIt Code of NICHD Parent NICHD Parent PT NCIt Code of second NICHD Parent NICHD second Parent PT NCIt Code of NICHD Subset NICHD PT of NICHD Subset C3718 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome 11p Partial Monosomy Syndrome A very rare congenital condition involving the complex of Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C98683 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconic Aciduria Type 1 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C98699 5 Alpha Steroid Reductase 2 Deficiency 5 Alpha Steroid Reductase 2 Deficiency 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C84524 5' 10' Methylenetetrahydrofolate Reductase Deficiency 5,10-Methylenetetrahydrofolate Reductase Deficiency A rare disorder associated with mental retardation, spasticity, and early death. 5,10-Methylenetetrahydrofolate reductase deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98701 Abdominal Aorta Thrombosis Abdominal Aorta Thrombosis Formation of blood clot in the lumen of the abdominal aorta. It may lead to severe abdominal pain and ischemic necrosis of the intestine. C26891 Thrombosis C99147 Neonatal Research Network Terminology C106273 ABO Hemolytic Disease of the Newborn ABO Isoimmunization Hemolytic Disease due to ABO Isoimmunization A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-A or anti-B antibodies from a mother to the child via the placenta against A or B antigens of the newborn's blood. A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-A or anti-B antibodies from a mother to the child via the placenta against A or B antigens of the newborn's blood. C101304 Hemolytic Disease of the Newborn C99147 Neonatal Research Network Terminology C34345 Achondroplasia Achondroplasia An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (MeSH) C89330 Developmental Disorder C84978 Osteochondrodysplasia C99147 Neonatal Research Network Terminology C98802 Acquired Cataract Acquired Cataract Cataract that results from the aging process, an injury, or as a manifestation of a systemic disorder. C26713 Cataract C99147 Neonatal Research Network Terminology C98804 Acquired Chylothorax Acquired Chylothorax Chylothorax that results from malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, or sarcoidosis. C79546 Chylothorax C99147 Neonatal Research Network Terminology C34347 Acquired Coagulation Factor Deficiency Acquired Coagulation Factor Deficiency Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. C2902 Coagulation Defect|Coagulopathy C99147 Neonatal Research Network Terminology C98803 Acquired Hydrocephalus Acquired Hydrocephalus Hydrocephalus that results from head trauma, brain tumors, intracranial hemorrhage, or meningitis. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that is acquired after birth. C3111 Hydrocephalus C99147 Neonatal Research Network Terminology C98805 Acquired Methemoglobinemia Acquired Methemoglobinemia Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods. C2869 Anemia C99147 Neonatal Research Network Terminology C103188 Acquired Phrenic Nerve Injury Acquired Phrenic Nerve Injury Phrenic Nerve Injury, Acquired Damage to the phrenic nerve that was not present at birth. An impairment of the function of the phrenic nerve as a consequence of disruption of the nerve itself or its origins in cervical roots 3 through 5 that has occurred after birth. C27580 Peripheral Nervous System Disorder C99016 Phrenic Nerve Injury C99147 Neonatal Research Network Terminology C103189 Acquired Phrenic Nerve Palsy Acquired Phrenic Nerve Palsy Damage to the phrenic nerve that results in paralysis of the hemidiaphragm and was not present at birth. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 that has occurred after birth. C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C98806 Acquired Rickets Acquired Rickets Rickets that is caused by vitamin D deficiency, hypocalcemia, or renal failure. C26878 Rickets C99147 Neonatal Research Network Terminology C101192 Acquired Unilateral Cataract Acquired Unilateral Cataract Cataract, Acquired, Unilateral A cataract in one eye that results from the aging process, an injury, or as a manifestation of a systemic disorder. C98802 Acquired Cataract C99147 Neonatal Research Network Terminology C27043 Acute Respiratory Failure Acute Respiratory Failure Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. C26872 Respiratory Failure C99147 Neonatal Research Network Terminology C34749 Acute Tubular Necrosis Acute Tubular Necrosis Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. Damage to the renal tubular epithelial cells resulting in acute kidney injury. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C98808 Adrenal Hemorrhage Adrenal Hemorrhage Hemorrhage and necrosis of the adrenal gland tissue. Bilateral and extensive hemorrhage may lead to acute adrenal insufficiency, shock, and death. C26791 Hemorrhage C99147 Neonatal Research Network Terminology C26691 Adrenocortical Insufficiency Adrenocortical Insufficiency Adrenal Cortical Hypofunction An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). Diminished production of glucocorticoids. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C99086 Airway Hemangioma Airway Hemangioma A rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease. C3085 Hemangioma C35079 Tracheal Disorder C99147 Neonatal Research Network Terminology C35139 Alagille Syndrome Alagille Syndrome Arteriohepatic Dysplasia An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C84543 Albinism Albinism A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin. C97174 Congenital Skin Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C110941 Allantoic Cyst Allantoic Cyst An umbilical cyst that arises from allantoic tissue that did not regress during gestational development. Most cases involve a patent urachus that allows for communication to the urinary bladder. C2978 Cyst C99147 Neonatal Research Network Terminology C84397 Alpha-1 Antitrypsin Deficiency Alpha-1-Antitrypsin Deficiency A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C74732 Alpha-fetoprotein Measurement Alpha-fetoprotein Measurement Alpha-1-Fetoprotein Measurement The determination of the amount of alpha-fetoprotein present in a sample. C49286 Hematology Test C99147 Neonatal Research Network Terminology C98809 Alveolar Capillary Dysplasia Alveolar Capillary Dysplasia A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C98810 Ambiguous Genitalia Ambiguous Genitalia A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia. External genitalia that are not completely consistent with the genetic sex. C103185 Congenital Reproductive System Abnormality C99147 Neonatal Research Network Terminology C34370 Amelia Amelia A congenital malformation characterized by the complete absence of all limbs. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C81183 Amino Acid Measurement Amino Acid Measurement Measurement of Amino Acid The measurement of the amount of amino acids in a biologic specimen. C49286 Hematology Test C99147 Neonatal Research Network Terminology C97090 Amino Acid Metabolism Disorder Amino Acid Metabolism Disorder Disorder of Amino Acid Metabolism An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C84552 Amniotic Band Syndrome Amniotic Band Syndrome Deformity due to Amniotic Band A rare congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. It may result in the formation of constriction rings around the digits and upper and lower extremities, swelling of the extremities and congenital amputations. A congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C98811 Anasarca Anasarca A condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition. Profound accumulation of an excessive amount of fluid throughout the body. C3002 Edema C99147 Neonatal Research Network Terminology C27226 Androgen Insensitivity Syndrome Androgen Resistance Syndrome A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C2869 Anemia Anemia A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. Abnormally low level of red blood cells and/or hemoglobin in the blood. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C97167 Anemia of Prematurity Anemia of Prematurity A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C84560 Anencephaly Anencephaly Anencephalus A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C26693 Aneurysm Aneurysm Bulging or ballooning in an area of an artery secondary to arterial wall weakening. C2931 Cardiovascular Disorder C99147 Neonatal Research Network Terminology C75462 Angelman Syndrome Angelman Syndrome A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C27503 Angiomatosis Angiomatosis Multiple Hemangiomas A benign diffuse vascular neoplasm usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling. C3085 Hemangioma C99147 Neonatal Research Network Terminology C98813 Annular Pancreas Annular Pancreas A rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98814 Anophthalmos Anophthalmos A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C98815 Antithrombin III Deficiency Antithrombin III Deficiency A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. C2902 Coagulation Defect|Coagulopathy C99147 Neonatal Research Network Terminology C26697 Aortic Aneurysm Aortic Aneurysm A sac formation resulting from the localized dilatation of the wall of the aorta. C26693 Aneurysm C99147 Neonatal Research Network Terminology C98818 Aortic Valve Atresia Aortic Valve Atresia Congenital Atresia of Aortic Valve A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C50462 Aortic Valve Stenosis Aortic Valve Stenosis Aortic Valve Stenosis Narrowing of the orifice of the aortic valve. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C101050 Congenital Aortic Septal Defect AortoPulmonary Window Aortic Septal Defect A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery. C84482 Congenital Septal Defect C99147 Neonatal Research Network Terminology C98816 Apgar Score at One Minute Apgar Score At 1 Minute The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at one minute after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C99147 Neonatal Research Network Terminology C98817 Apgar Score at Ten Minutes Apgar Score At 10 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at ten minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C99147 Neonatal Research Network Terminology C98819 Apgar Score at Fifteen Minutes Apgar Score At 15 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at fifteen minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C99147 Neonatal Research Network Terminology C98820 Apgar Score at Twenty Minutes Apgar Score At 20 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at twenty minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C99147 Neonatal Research Network Terminology C98821 Apgar Score at Five Minutes Apgar Score At 5 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at five minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C99147 Neonatal Research Network Terminology C98822 Aplasia Cutis Congenita Aplasia Cutis Congenita Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation. C97174 Congenital Skin Disorder C99147 Neonatal Research Network Terminology C26698 Apnea Apnea Transient cessation of respiration. Cessation of air flow. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C98823 Apnea of Prematurity Apnea of Prematurity The cessation of breathing in premature infants that lasts for more than 15-20 seconds. C26698 Apnea C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C35145 Appendicitis Appendicitis Acute inflammation of the vermiform appendix. Appendicitis is a condition characterized by inflammation of the appendix, a small pouch attached to the beginning of the large intestine.|Inflammation of the vermiform appendix. C2990 Gastrointestinal Disorder C26726 Infectious Disease C99147 Neonatal Research Network Terminology C98824 Aprosencephaly Aprosencephaly A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C3455 Arachnoid Cyst Arachnoid Cyst An intracranial or spinal cyst which contains fluid and is composed of arachnoid cells. Intracranial arachnoid cysts may present with headaches, seizures and hydrocephalus. Spinal arachnoid cysts may present with symptoms of radiculopathy. C2978 Cyst C99147 Neonatal Research Network Terminology C99081 Arakawa Syndrome II Arakawa Syndrome II Methionine Synthase Deficiency|Tetrahydrofolate Methyltransferase Deficiency A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C84569 Argininosuccinic Aciduria Argininosuccinic Aciduria Argininosuccinate Lyase Deficiency A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C90496 Arm Recoil Test Arm Recoil Test Arm Recoil Measurement A test commonly administered to assess the physiologic response to extending the arms as straight as possible alongside the body when lying down. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C84570 Arnold-Chiari Malformation Arnold-Chiari Malformation (Arnold) Chiari Malformation|Chiari Malformation A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C98826 Arterial Thrombosis Arterial Thrombosis Formation of a blood clot in the lumen of an artery. C26891 Thrombosis C99147 Neonatal Research Network Terminology C101338 Arterial Thrombosis Related to Vascular Access Complication Arterial Thrombosis Related to Vascular Access Complication Acquired Secondary Arterial Thrombosis due to Catheter Complication The formation of a thrombus in the artery as a direct result of an activity associated with vascular access. C98826 Arterial Thrombosis C99147 Neonatal Research Network Terminology C4297 Arteriovenous Hemangioma Arteriovenous Hemangioma A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. C3085 Hemangioma C99147 Neonatal Research Network Terminology C84572 Arthrogryposis Arthrogryposis A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C2885 Ascites Ascites Accumulation of fluid in the peritoneal cavity. The fluid may be serous, hemorrhagic, or the result of tumor metastasis to the peritoneum. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C50466 Atrial Fibrillation Atrial Fibrillation A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) An irregular heart rhythm, usually associated with a rapid rate, that is caused by abnormal electrical activity within the atria. C27158 Supraventricular Arrhythmia C99147 Neonatal Research Network Terminology C51224 Atrial Flutter Atrial Flutter A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) A rapid heart rate, associated with a regular rhythm, that is caused by abnormal electrical activity within the atria. C27158 Supraventricular Arrhythmia C99147 Neonatal Research Network Terminology C84473 Atrial Septal Defect Atrial Septal Defect The presence of a defect (opening) in the septum that separates the two atria of the heart. It can be congenital or acquired. C84482 Congenital Septal Defect C99147 Neonatal Research Network Terminology C2889 Autoimmune Disease Autoimmune Disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). C3507 Immune System Disorder C99147 Neonatal Research Network Terminology C98829 Autosomal Dominant Disorder Autosomal Dominant Disorder Autosomal Dominant Hereditary Disorder An inherited disorder that manifests when one copy of a mutated gene is present. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C85866 Autosomal Recessive Disorder Autosomal Recessive Disorder Autosomal Recessive Hereditary Disorder An inherited disorder manifested only when two copies of a mutated gene are present. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C84579 Autosomal Recessive Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Infantile Type Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. C3101 Genetic Disorder C75464 Polycystic Kidney Disease C99147 Neonatal Research Network Terminology C84585 Barth Syndrome Barth Syndrome 3-Methylglutaconic Aciduria Type 2 A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C92741 Baseline Fetal Heart Rate Baseline Fetal Heart Rate The number of fetal cardiac beats per minute, considered as the reference value against which measurements in the future can be made. The mean fetal heart rate rounded to increments of 5 beats per minute during a 10 minute segment, excluding accelerations and decelerations, periods of marked variability, or baseline segments that differ by more than 25 beats per minute. In any given 10 minute window, the minimum baseline duration must be at least 2 minutes but not necessarily contiguous. C92716 Fetal Heart Rate C99147 Neonatal Research Network Terminology C61454 Basilar Rales Basilar Rales Basal Crepitations Abnormal breath sounds (crackles) heard on auscultation only in the bases of the lungs. They indicate inflammation, fluid, or infection in the air sacs of the lung. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C81232 Bayley Scale of Infant Development I Bayley Scale of Infant Development I Bayley Scale of Infant Development The first edition of a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavioral Examination C99147 Neonatal Research Network Terminology C99149 Bayley Scale of Infant Development II Bayley Scale of Infant Development II The second edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavioral Examination C99147 Neonatal Research Network Terminology C99150 Bayley Scale of Infant Development III Bayley Scale of Infant Development III The third edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavioral Examination C99147 Neonatal Research Network Terminology C92781 Beat to Beat Variability Beat to Beat Variability Fetal Heart Rate Variability A fetal heart monitor finding where there is a change in the beats per minute from one fetal heart beat to the next. C92790 Fetal Heart Rate Variability C99147 Neonatal Research Network Terminology C34415 Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C81234 Behavioral Assessment Behavioral Assessment Assessment of individual responses to age appropriate stimuli. C25214 Evaluation Procedure C99147 Neonatal Research Network Terminology C81233 Behavioral Development Behavioral Development The evolution of actions, including reactions and responses to the environment, over an individual's lifespan. C17770 Maturation C99147 Neonatal Research Network Terminology C81235 Behavioral Rating Scale Behavioral Rating Scale Behavior Rating Scale A range of values designed to quantify the qualitative responses of an individual to a set of challenges. C81314 Newborn Behavioral Examination C99147 Neonatal Research Network Terminology C98840 Benign Congenital Hypotonia Benign Congenital Hypotonia Mild hypotonia that usually appears early in infancy and has a favorable outcome. It is not a manifestation of another disorder that may cause hypotonia (e.g., cerebral palsy or muscular dystrophy). A mild decrease in muscle tone, which is not a manifestation of another disorder that may cause hypotonia, that usually appears early in infancy and has a favorable outcome. C87070 Hypotonia C99147 Neonatal Research Network Terminology C98841 Beta-Ketothiolase Deficiency Beta-Ketothiolase Deficiency BKT A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma. C101334 Organic Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C101187 Bilateral Anophthalmos Bilateral Anophthalmos Anophthalmos, Bilateral A rare congenital abnormality characterized by the complete absence of ocular tissue in both orbits. C98814 Anophthalmos C99147 Neonatal Research Network Terminology C101193 Bilateral Cataracts Bilateral Cataracts Partial or complete opacity of the crystalline lens of both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) C26713 Cataract C99147 Neonatal Research Network Terminology C101189 Bilateral Microphthalmos Bilateral Microphthalmos Microphthalmos, Bilateral A congenital abnormality characterized by the presence of two abnormally small eye globes. C98989 Microphthalmos C99147 Neonatal Research Network Terminology C101268 Bilateral Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Bilateral Hypoplasia of the Optic Nerve|Hypoplasia of the Optic Nerve, Bilateral A congenital abnormality characterized by the underdevelopment of both optic nerves. C98999 Optic Nerve Hypoplasia C99147 Neonatal Research Network Terminology C101219 Bilateral Renal Agenesis Bilateral Renal Agenesis A congenital abnormality characterized by the absence of both kidneys. C99041 Renal Agenesis C99147 Neonatal Research Network Terminology C101313 Bilateral Renal Dysplasia Bilateral Renal Dysplasia A finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. Bilateral renal dysplasia is a congenital malformation in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. C3847 Renal Cell Dysplasia C99147 Neonatal Research Network Terminology C34421 Biliary Atresia Biliary Atresia Congenital Biliary Atresia A congenital disorder characterized by blockage or absence of the intrahepatic or extrahepatic bile ducts. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C84598 Biotinidase Deficiency Biotinidase Deficiency A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C101221 Birth Head Circumference Birth Head Circumference Head Circumference at Initial Disposition The measurement around a neonate's head at birth. C81255 Head Circumference C99147 Neonatal Research Network Terminology C79849 Bladder Fistula Bladder Fistula An abnormal communication between the urinary bladder and another organ or anatomic site. C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C92744 Blood Glucose Measurement Blood Glucose Measurement Glucose Measurement, Blood A quantitative measurement for assessing the amount of glucose present in a blood sample. C49286 Hematology Test C99147 Neonatal Research Network Terminology C32221 Body Part Body Part Body Structure Any part of an organism. C12219 Anatomic Structure, System, or Substance C99147 Neonatal Research Network Terminology C35370 Bone Marrow Neoplasm Bone Marrow Neoplasm Neoplasm of Bone Marrow Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). C3262 Neoplasm C99147 Neonatal Research Network Terminology C9175 Bowel Obstruction Bowel Obstruction Intestinal Obstruction Blockage of the normal flow of the intestinal contents within the bowel. A blockage of the passage of the intestinal contents. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C103231 Brachial Plexus Injury Brachial Plexus Injury Damage to the nerves in the brachial plexus network. These nerves originate in the spinal column and innervate the shoulder, arm and hand. Often, damage is sustained from overstretching or motor vehicle accidents. C3671 Injury C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C102990 Brachial Plexus Palsy Related to Birth Brachial Plexus Palsy Related to Birth Brachial Plexus Palsy due to Birth Trauma Birth injury to the brachial plexus. It results in paralysis of the muscles of the shoulder, arm, and hand. It manifests as lack of mobility in the arm, usually in the first week of life. In the majority of cases there is spontaneous recovery. A condition characterized by reduced or absent movement of the ipsilateral shoulder, arm or hand as a consequence of an injury to the brachial plexus, cervical roots 5 through 8 and thoracic root 1, sustained during the birthing process. C101035 Birth Injury|Neonatal Injury Related to Birth C3310 Paralysis C99147 Neonatal Research Network Terminology C99144 Branch Pulmonary Artery Stenosis Branch Pulmonary Artery Stenosis Pulmonary Artery Stenosis, Branch (not PPS) Narrowing of the lumen of the right or left pulmonary artery branch. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C98846 Breast Milk Jaundice Breast Milk Jaundice Neonatal Jaundice due to Delayed Conjugation from Breast Milk Inhibitors Jaundice in an otherwise healthy breast-fed newborn. It appears four to seven days after birth, lasts longer than the physiologic jaundice, and there are no identifiable causes. Yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn. It commonly appears one to two weeks after birth and lasts longer than physiologic jaundice. C99246 Neonatal Jaundice C99147 Neonatal Research Network Terminology C81306 Breathing Effort Score Breathing Effort Score A component of the Apgar score, it is the numerical value assigned to the assessment of breathing effort by a neonate. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry. A component of the Apgar score, it is the numerical value assigned to the assessment of the newborn's breathing effort. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry. C118807 C99147 Neonatal Research Network Terminology C98847 Bronchomalacia Bronchomalacia A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing. Increased bronchial collapsibility. C98541 Chronic Lung Disease C99147 Neonatal Research Network Terminology C90599 Bronchopulmonary Dysplasia Bronchopulmonary Dysplasia Chronic lung disease requiring treatment with oxygen for at least 28 days and with a spectrum of severity from mild to severe, that predominantly affects premature infants. While the radiologic pattern is typical in the closer to term patient, the pattern in the small preterm infant is very non-discrete and variable. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C97124 Bronchopulmonary Sequestration Bronchopulmonary Sequestration Congenital Sequestration of Lung|Sequestered Lobe (Pulmonary Sequestration) A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C98863 Butyryl-CoA Dehydrogenase Deficiency Butyryl-CoA Dehydrogenase Deficiency A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C40460 Cafe Au Lait Spot Cafe Au Lait Spot A light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome. C3371 Skin Disorder C99147 Neonatal Research Network Terminology C84609 Campomelic Dysplasia Campomelic Dysplasia A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects. C84978 Osteochondrodysplasia C99147 Neonatal Research Network Terminology C84611 Canavan Disease Canavan Disease Spongy Degeneration of Central Nervous System A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head. Spongy degeneration of central nervous system, spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C84612 Carbamoyl-Phosphate Synthetase I Deficiency Carbamoyl Phosphate Synthetase Deficiency A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability. C84785 Urea Cycle Metabolism Disorder C99147 Neonatal Research Network Terminology C84615 Carbohydrate-Deficient Glycoprotein Syndrome Carbohydrate-Deficient Glycoprotein Syndrome An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C103157 Cardiac Compression during Initial Resuscitation Cardiac Compression during Initial Resuscitation An emergency measure on newborns, which requires assistance to begin breathing at birth. Initial resuscitation includes administration of positive-pressure ventilation and chest compressions to empty the ventricles of the heart in an effort to circulate the blood, and also to stimulate the heart so that it will resume its pumping action. C102971 Cardiac Resuscitation C99147 Neonatal Research Network Terminology C78245 Cardiac Conduction Disorder Cardiac Conduction Disorder Disorder of Cardiac Conduction A disorder affecting the conduction system that sends electrical signals in the myocardium. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C98935 Cardiac Monitoring Cardiac Monitoring The act of observing and recording the heart rate for determining the baseline values and any variations or other abnormal tracings. C18020 Diagnostic Procedure C99147 Neonatal Research Network Terminology C3081 Cardiac Neoplasm Cardiac Neoplasm Cardiac Tumor|Neoplasm of Heart A benign or malignant neoplasm that affects the heart and/or the pericardium. Representative examples include atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. C3262 Neoplasm C99147 Neonatal Research Network Terminology C102971 Cardiac Resuscitation Cardiac Resuscitation Measures performed to restore cardiac function. C49236 Therapeutic Procedure C99147 Neonatal Research Network Terminology C34830 Cardiomyopathy Cardiomyopathy A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. A disease of the heart muscle. C3079 Heart Disorder C101216 Myopathy C99147 Neonatal Research Network Terminology C2931 Cardiovascular Disorder Cardiovascular Disorder Disorder of Cardiovascular System A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C35552 Cardiovascular System Finding Cardiovascular System Finding Cardiovascular Finding Symptoms, physical examination results, and/or laboratory test results related to the cardiovascular system. C3367 Finding C99147 Neonatal Research Network Terminology C98871 Carnitine Palmitoyltransferase I Deficiency Carnitine Palmitoyltransferase I Deficiency A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C26713 Cataract Cataract Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) C26767 C99147 Neonatal Research Network Terminology C26715 Cellulitis Cellulitis Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. An infection of the skin and subcutaneous tissues with induration and erythema. C2890 Bacterial Disease C99147 Neonatal Research Network Terminology C4657 Central Nervous System Cyst Central Nervous System Cyst A congenital or acquired cyst that is present in the central nervous system. C2978 Cyst C99147 Neonatal Research Network Terminology C2934 Central Nervous System Disorder Central Nervous System Disorder Disorder of Central Nervous System A non-neoplastic or neoplastic disorder which affects the brain and/or spinal cord. C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C27582 Central Nervous System Infectious Disorder Central Nervous System Infectious Disease Infectious Disease of Central Nervous System An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis. C2934 Central Nervous System Disorder C26726 Infectious Disease C99147 Neonatal Research Network Terminology C50484 Cephalohematoma Cephalohematoma Cephalhematoma A subperiosteal hemorrhage limited to the surface of one cranial bone, a usually benign condition seen in the newborn as a result of bone trauma. A subperiosteal hemorrhage limited to the surface of one cranial bone. It is seen in the newborn and often related to the birthing process. C81236 Birth Complication C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C101022 Cerebral Arterial Aneurysm Cerebral Arterial Aneurysm A balloon type pouch or bulge in the wall of a cerebral artery. C34458 Intracranial Aneurysm C99147 Neonatal Research Network Terminology C2936 Cerebral Arteriovenous Malformation Cerebral Arteriovenous Malformation An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches, bruit upon head examination, seizures, and bleeding. When bleeding occurs, the signs and symptoms are similar to those in stroke. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99147 Neonatal Research Network Terminology C98273 Cerebral Atrophy Cerebral Atrophy Cortical Atrophy Atrophy of the cerebrum caused by focal or generalized neuronal loss. C96412 Brain Development Abnormality C99147 Neonatal Research Network Terminology C101023 Cerebral Venous Aneurysm Cerebral Venous Aneurysm A balloon type pouch or bulge in the wall of a cerebral vein. C34458 Intracranial Aneurysm C99147 Neonatal Research Network Terminology C3390 Cerebrovascular Accident Cerebrovascular Accident Stroke A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. Brain tissue necrosis due to a disturbance in the blood flow or hemorrhage. C50438 Intracranial Hemorrhage C99147 Neonatal Research Network Terminology C2938 Cerebrovascular Disorder Cerebrovascular Disease A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. C2931 Cardiovascular Disorder C99147 Neonatal Research Network Terminology C101210 Cervical Meningocele Cervical Meningocele A congenital abnormality in the cervical region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C99147 Neonatal Research Network Terminology C98875 Cervical Myelocele Cervical Myelocele Herniation of spinal cord tissue and meninges through a defect in the cervical region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C98874 Myelocele C99147 Neonatal Research Network Terminology C101202 Cervical Myelomeningocele Cervical Myelomeningocele Cervical Meningomyelocele A congenital abnormality in the cervical region of the spine in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Myelomeningocele|Spina Bifida Cystica C99147 Neonatal Research Network Terminology C75100 CHARGE Syndrome CHARGE Syndrome Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C2943 Choledochal Cyst Choledochal Cyst Cystic dilatation of the hepatic duct or bile duct. C2978 Cyst C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C83006 Cholestasis Cholestasis Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. Diminished or obstructed bile flow. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C84632 Chondrodysplasia Punctata Chondrodysplasia Punctata Chondrodysplasia Punctata (Stippled Epiphyses) Group A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. C84978 Osteochondrodysplasia C99147 Neonatal Research Network Terminology C84684 Ellis-Van Creveld Syndrome Chondroectodermal Dysplasia A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C110923 Chorioretinitis Chorioretinitis Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. A form of posterior uveitis in which the choroid and retina are inflamed. C26767 C99208 Eye Finding C99147 Neonatal Research Network Terminology C2950 Cytogenetic Abnormality Chromosomal Abnormality Chromosome Abnormality An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98541 Chronic Lung Disorder Chronic Lung Disease A persistent non-neoplastic disorder of the lungs. Representative examples include: chronic obstructive pulmonary disease, chronic bronchitis, emphysema, pulmonary fibrosis, pneumoconiosis, asbestosis, atelectasis, radiation induced pneumonitis, and radiation fibrosis. Chronic lung disease (CLD) is a general term for long-term respiratory problems in premature babies. It is also known as bronchopulmonary dysplasia (BPD).Chronic lung disease is a condition in which damaged tissue in a newborn baby's lungs causes breathing and health problems. The lungs trap air or collapse, fill with fluid, and produce extra mucus. C3198 Lung Disorder C99147 Neonatal Research Network Terminology C79546 Chylothorax Chylothorax A milky pleural effusion resulting from accumulation of lymph fluid in the pleural cavity. Causes include malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, sarcoidosis, and congenital causes. A pleural effusion resulting from the accumulation of lymph in the pleural cavity. C3331 Pleural Effusion|Pleural effusion C99147 Neonatal Research Network Terminology C84638 Ciliary Motility Defect Ciliary Motility Defect Dysmotility Syndrome|Immotile Cilia Syndrome Defective movements of the cilia. It includes abnormal movements of the cilia in the nose and paranasal sinuses, the respiratory tract and spermatozoa. C9229 Systemic Disorder C99147 Neonatal Research Network Terminology C84639 Citrullinemia Citrullinemia A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood. C84785 Urea Cycle Metabolism Disorder C99147 Neonatal Research Network Terminology C117117 Classical Phenylketonuria Classical Phenylketonuria CPKU A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria. C81315 Phenylketonuria C99147 Neonatal Research Network Terminology C77140 Clinical Test Result Clinical Test Result Evaluation Finding The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. C70856 Observational Result C99147 Neonatal Research Network Terminology C34491 Clubbing of Fingers Clubbing of Fingers Finger Clubbing An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C84641 Clubfoot Clubfoot Talipes Equinovarus The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. A malformation involving one or both feet, in which the affected foot is rotated inward and downward. C84978 Osteochondrodysplasia C99147 Neonatal Research Network Terminology C2902 Coagulation Disorder Coagulation Defect A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. A condition of abnormal blood clotting or bleeding. C2931 Cardiovascular Disorder C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C101333 Coagulation Disorder Related to Liver Dysfunction Coagulation Disorder Related to Liver Dysfunction Blood Coagulation Disorder due to Liver Disease|Coagulation Defects due to Liver Disease A disorder of blood clotting that is attributable to a deficiency in liver function. C2902 Coagulation Defect|Coagulopathy C99147 Neonatal Research Network Terminology C27215 Coagulation Factor Deficiency Coagulation Factor Deficiency Coagulation Factor Deficiency Syndrome Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. C2902 Coagulation Defect|Coagulopathy C99147 Neonatal Research Network Terminology C84567 Aortic Coarctation Coarctation of Aorta Aortic Coarctation Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C84644 Cogan-Reese Syndrome Cogan-Reese Syndrome A very rare syndrome characterized by eye abnormalities that lead to vision impairment. These abnormalities include iris atrophy, decreased corneal endothelium, iris nodules, adhesion of the iris to the lens and glaucoma. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C98878 Coloboma of the Eyelid Coloboma of Eyelid A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. C99208 Eye Finding C99147 Neonatal Research Network Terminology C98879 Coloboma of the Iris Coloboma of Iris A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. C99208 Eye Finding C99147 Neonatal Research Network Terminology C103956 Coloboma of the Retina Coloboma of Retina A congenital or acquired defect characterized by the presence of a hole in the retina. C99208 Eye Finding C99147 Neonatal Research Network Terminology C101024 Colon Atresia Colon Atresia Congenital Atresia of Colon A congenital malformation characterized by the absence of a normal opening in a part of the colon. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C101305 Colonic Band Colonic Band A pathologic fibrous band that impedes passage of intestinal contents through the colon. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C78239 Colonic Fistula Colonic Fistula Large Bowel Fistula An abnormal communication between the large intestine and another organ or cavity. C34732 Intestinal Fistula C99147 Neonatal Research Network Terminology C78243 Colonic Stenosis Colonic Stenosis Narrowing of the lumen of colon. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C101315 Colonic Web Colonic Web A pathologic fibrous net that impedes passage of intestinal contents through the colon. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C101029 Atrioventricular Septal Defect Common Atrioventricular Canal A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves. C84482 Congenital Septal Defect C99147 Neonatal Research Network Terminology C99542 Common Ventricle Disorder Common Ventricle An umbrella term used to describe several very different complex congenital heart defects that share the same problem: the heart has only one functional ventricle (anatomically right or left or indeterminate) supplying the systemic circulation. These defects include tricuspid atresia, hypoplastic left or right heart syndrome, double outlet right ventricle, double inlet left ventricle, and other forms of single ventricle defects. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C50501 Complete Atrioventricular Block Complete Atrioventricular Block Non-Congenital Complete Atrioventricular Block A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) Complete disassociation of the atrial electrical impulse conduction to the ventricles. C2881 Arrhythmia C99147 Neonatal Research Network Terminology C101030 Complete Atrioventricular Canal Defect Balanced Complete Atrioventricular Canal Defect (Balanced) Atrioventricular septal defect in which the atrioventricular junction is shared evenly between the left ventricle and right ventricle. C101029 Common Atrioventricular Canal C99147 Neonatal Research Network Terminology C101031 Complete Atrioventricular Canal Defect Unbalanced Complete Atrioventricular Canal Defect (Unbalanced) Atrioventricular septal defect in which there is usually a single dominant ventricle and a hypoplastic ventricle. C101029 Common Atrioventricular Canal C99147 Neonatal Research Network Terminology C101223 Complete Trisomy 13 Syndrome Complete Trisomy 13 Syndrome A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C101362 Complete Trisomy 18 Syndrome Complete Trisomy 18 Syndrome A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. Characteristics include profound mental retardation and severe malformations. Individuals with this syndrome rarely live past one year. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C101222 Complete Trisomy 21 Syndrome Complete Trisomy 21 Syndrome A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C2959 Complication Complication Any disease or disorder that occurs during the course of (or because of) another disease. C3367 Finding C99147 Neonatal Research Network Terminology C2849 Congenital Abnormality Congenital Abnormality Congenital Anomalies of Fetus|Congenital Deformity|Congenital Malformation Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. A morphologic defect of an organ, part of an organ, or larger region of the body that results from an intrinsically abnormal developmental process during gestation. C36287 C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C34360 Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia Adrenogenital Disorder A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C87077 Congenital Ankyloblepharon Congenital Ankyloblepharon A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. A finding in extremely premature newborns in which the normal epithelial adhesions connecting the upper and lower eyelids have not yet degraded. C99208 Eye Finding C99147 Neonatal Research Network Terminology C110942 Congenital Anomaly of Pulmonary Veins Congenital Anomaly of Pulmonary Veins Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C103266 Congenital Aortic Arch Hypoplasia Congenital Aortic Arch Hypoplasia Congenital Hypoplasia of Aortic Arch An underdeveloped aortic arch that is present at birth. This symptom is usually found in association with other cardiac defects that characterize left heart syndrome. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C101194 Congenital Bilateral Cataracts Congenital Bilateral Cataracts Cataract, Congenital, Bilateral Cataract in both eyes that are present at birth. C101193 Bilateral Cataracts C98888 Congenital Cataract C99147 Neonatal Research Network Terminology C98848 Congenital Bundle of His Tachycardia Congenital Bundle of His Tachycardia Congenital His Bundle Tachycardia|Junctional Ectopic Tachycardia, Congenital A congenital disorder charactized by an electrocardiographic finding of tachycardia that affects neonates and infants. It results from an increased automaticity in the atrioventricular node and His bundle. C110938 Tachyarrhythmia C99147 Neonatal Research Network Terminology C35729 Congenital Cardiovascular Abnormality Congenital Cardiovascular Abnormality Congenital Abnormality of the Circulatory System|Congenital Anomaly of Cardiovascular System A heart or vascular abnormality which is inborn or present at birth. C2931 Cardiovascular Disorder C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C98888 Congenital Cataract Congenital Cataract Cataract that is present at birth. C26713 Cataract C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C98889 Congenital Central Hypoventilation Congenital Central Hypoventilation A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98890 Congenital Cerebellar Hypoplasia Congenital Cerebellar Hypoplasia Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C98891 Congenital Chylothorax Congenital Chylothorax Chylothorax that is present at birth. C79546 Chylothorax C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C99265 Congenital Complete Atrioventricular Block Congenital Complete Atrioventricular Block A disorder characterized by an electrocardiographic finding of a complete atrioventricular block that manifests during fetal life or soon after birth. It may be isolated or associated with other congenital heart defects. Isolated congenital complete atrioventricular block may be associated with maternal connective tissue disorders. C50501 Atrioventricular Block, Third Degree|Complete Atrioventricular Block C78245 Cardiac Conduction Disorder C99147 Neonatal Research Network Terminology C98892 Congenital Cystic Adenomatoid Malformation of the Lung Congenital Cystic Adenomatoid Malformation of Lung A congenital malformation that is present in the lungs of the newborn. It is characterized by a spectrum of lesions that range from single or multiple cysts to bulky overgrowth of bronchiole-like structures. Signs and symptoms include respiratory distress, recurrent pulmonary infections, dyspnea, and failure to thrive. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C98893 Congenital Diaphragmatic Hernia Congenital Diaphragmatic Hernia Diaphragmatic hernia that is present at birth. C89337 Congenital Musculoskeletal Defect C34687 Diaphragmatic Hernia C99147 Neonatal Research Network Terminology C101198 Congenital Facial Nerve Palsy Congenital Facial Nerve Palsy Partial or complete paralysis of the facial muscles of one side of an individual's face that is present at birth. It is caused by damage to the seventh cranial nerve. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve that has occurred before birth. C97172 Congenital Nervous System Disorder C26769 Facial Nerve Palsy C99147 Neonatal Research Network Terminology C40425 Congenital Hamartoma Congenital Hamartoma A hamartomatous lesion which is present at birth. A benign tumor-like nodule composed of an overgrowth of mature cells and tissues which is present at birth. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C95834 Congenital Heart Disease Congenital Heart Disease A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99147 Neonatal Research Network Terminology C98948 Congenital H-type Tracheoesophageal Fistula Congenital H-type Tracheoesophageal Fistula Congenital tracheoesophageal fistula without esophageal atresia. C97171 Congenital Gastrointestinal Disorder C35080 Tracheoesophageal Fistula C99147 Neonatal Research Network Terminology C98876 Congenital Hydrocephalus Congenital Hydrocephalus Hydrocephalus that is present at birth. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that is present at birth. C97172 Congenital Nervous System Disorder C3111 Hydrocephalus C99147 Neonatal Research Network Terminology C102979 Congenital Hydronephrosis Congenital Hydronephrosis Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C103922 Congenital Hydroureter Congenital Hydroureter Dilatation of the ureter caused by obstruction of urine flow that is present at birth. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C26734 Congenital Hypothyroidism Congenital Hypothyroidism A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C102984 Congenital Ileal Stenosis Congenital Ileal Stenosis Narrowing of the lumen of the ileum that is present at birth. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C102985 Congenital Jejunal Stenosis Congenital Jejunal Stenosis Narrowing of the lumen of the jejunum that is present at birth. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98895 Congenital Lobar Emphysema Congenital Lobar Emphysema A rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C98882 Congenital Lung Malformation Congenital Lung Malformation Congenital Abnormality of Lung A malformation in the lung that is present at birth. Representative examples include pulmonary hypoplasia, pulmonary agenesis, congenital lobar emphysema, and alveolar capillary dysplasia. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C99267 Congenital Malformation Syndrome Congenital Malformation Syndrome A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C101329 Congenital Malformation Syndrome Related to Known Exogenous Cause Congenital Malformation Syndrome Related to Known Exogenous Cause Congenital Malformation Syndrome due to Known Exogenous Cause A syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous cause. C99267 Congenital Malformation Syndrome C99147 Neonatal Research Network Terminology C3944 Congenital Melanocytic Nevus Congenital Melanocytic Nevus Congenital Melanocytic Nevi|Congenital Pigmented Melanocytic Nevus A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion. C3262 Neoplasm C99147 Neonatal Research Network Terminology C34816 Congenital Metabolic Disorder Congenital Metabolic Disorder Inborn Error of Metabolism A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. C3235 Metabolic Disease C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology C98898 Congenital Methemoglobinemia Congenital Methemoglobinemia Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. C2869 Anemia C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C89337 Congenital Musculoskeletal Defect Congenital Musculoskeletal Defect Congenital Abnormality of the Musculoskeletal System An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. C2849 Congenital Abnormality|Congenital Malformation C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C35337 Congenital Nephrotic Syndrome Congenital Nephrotic Syndrome A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis. C98885 Congenital Urinary System Abnormality C34845 Nephrotic Syndrome C99147 Neonatal Research Network Terminology C97172 Congenital Nervous System Disorder Congenital Nervous System Disorder Congenital Abnormality of the Nervous System An abnormality of the nervous system that is present at birth or detected in the neonatal period. C2849 Congenital Abnormality|Congenital Malformation C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C103156 Congenital Phrenic Nerve Injury Congenital Phrenic Nerve Injury Phrenic Nerve Injury, Congenital Damage to the phrenic nerve that is present at birth. An impairment of the function of the phrenic nerve as a consequence of disruption of the nerve itself or its origins in cervical roots 3 through 5 that has occurred before birth. C27580 Peripheral Nervous System Disorder C99016 Phrenic Nerve Injury C99147 Neonatal Research Network Terminology C101199 Congenital Phrenic Nerve Palsy Congenital Phrenic Nerve Palsy Phrenic Nerve Palsy, Congenital Damage to the phrenic nerve that results in paralysis of the hemidiaphragm at birth. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 that has occurred before birth. C97172 Congenital Nervous System Disorder C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C103923 Congenital Postural Scoliosis Congenital Postural Scoliosis Abnormal sideways curvature of the spine that is present at birth. C78603 Scoliosis C99147 Neonatal Research Network Terminology C99034 Congenital Pulmonary Lymphangiectasia Congenital Pulmonary Lymphangiectasia Congenital Pulmonary Lymphangiectasis A congenital abnormality in the lungs characterized by the presence of dilated lymphatic vessels in the interlobar, perivascular, and peribronchial areas of the lungs. Signs and symptoms appear at birth and include tachypnea, cyanosis, and respiratory distress. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C103935 Congenital Pulmonary Valve Insufficiency Congenital Pulmonary Valve Insufficiency Congenital Insufficiency of Pulmonary Valve|Congenital Pulmonary Insufficiency Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth. C95834 Congenital Heart Disease C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C103185 Congenital Reproductive System Abnormality Congenital Reproductive System Abnormality Congenital Abnormality of the Reproductive System A disorder that affects the female or male reproductive system and is present at birth. Representative examples include ovarian agenesis, vaginal agenesis, and penile agenesis. C35107 Congenital Genitourinary Abnormality C4875 Reproductive System Disorder C99147 Neonatal Research Network Terminology C97173 Congenital Respiratory System Disorder Congenital Respiratory System Disorder Congenital Abnormality of the Respiratory System An abnormality of the respiratory system that is present at birth or detected in the neonatal period. C2849 Congenital Abnormality|Congenital Malformation C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C84482 Congenital Septal Defect Congenital Septal Defect Cardiac Septal Defects A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C101197 Congenital Supraventricular Tachycardia Congenital Supraventricular Tachycardia Congenital SVT|Supraventricular Tachycardia (SVT), Congential A disorder present at birth characterized by an electrocardiographic finding of a tachycardia that originates above the ventricles. C35061 Supraventricular Tachycardia C99147 Neonatal Research Network Terminology C101195 Congenital Unilateral Cataract Congenital Unilateral Cataract Cataract, Congenital, Unilateral Cataract in one eye that is present at birth. C98888 Congenital Cataract C99147 Neonatal Research Network Terminology C98885 Congenital Urinary System Abnormality Congenital Urinary System Abnormality Congenital Abnormality of the Urinary System An abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra. C35107 Congenital Genitourinary Abnormality C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C98886 Congenital Vena Cava Abnormality Congenital Vena Cava Abnormality Congenital Abnormality of Vena Cava An abnormality of the superior or inferior vena cava that is present at birth. Representative examples include persistent left superior vena cava, absence of infrarenal inferior vena cava, or absence of the entire inferior vena cava. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C101196 Congenital Ventricular Tachycardia Congenital Ventricular Tachycardia An electrocardiographic finding of a tachycardia that originates in the ventricles that is present at birth. C95834 Congenital Heart Disease C50802 Ventricular Tachycardia C99147 Neonatal Research Network Terminology C103936 Congential Aortic Valve Insufficiency Congential Aortic Valve Insufficiency Congenital Aortic Insufficiency|Congenital Insufficiency of Aortic Valve Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. C95834 Congenital Heart Disease C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C3080 Congestive Heart Failure Congestive Heart Failure Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C98903 Conjoined Twins Conjoined Twins A monoamniotic twin gestation in which the twins share one or more organs. A monoamniotic twin gestation in which the twins share one or more organs. C90491 C99147 Neonatal Research Network Terminology C26729 Connective Tissue Disorder Connective Tissue Disorder Disorder of Connective Tissue A congenital or acquired disorder characterized by abnormalities in one or more of the elements of the connective tissues. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C34478 Cor Pulmonale Cor Pulmonale Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C84651 Cor Triatriatum Cor Triatriatum A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C75016 Cornelia De Lange Syndrome Cornelia De Lange Syndrome A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C101314 Coronary Anomaly Coronary Anomaly Coronary Anomalies (includes aneurysm, anomalous) Any deviation from normal in the coronary vasculature. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99147 Neonatal Research Network Terminology C98905 Corpus Callosum Agenesis Corpus Callosum Agenesis Agenesis of Corpus Callosum A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C26733 Cranial Nerve Disorder Cranial Nerve Disorder Disorder of Cranial Nerve A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C84653 Craniofacial Dysostosis Craniofacial Dysostosis Crouzon Syndrome A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C98907 Craniorachischisis Craniorachischisis A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth. C84923 Neural Tube Defect C99147 Neonatal Research Network Terminology C84655 Craniosynostosis Craniosynostosis Craniosynostosis Syndrome A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C34518 Cri du Chat Syndrome Cri du Chat Syndrome 5p Partial Monosomy Syndrome|Cri-du-Chat Syndrome A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C98908 Cryptophthalmos Syndrome Cryptophthalmos Syndrome A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C98957 Cutaneous Fistula Cutaneous Fistula Dermal Fistula or Sinus|Dermal Fistula|Fistula of Skin|Skin Sinus An abnormal communication between the skin and another organ or cavity. C3371 Skin Disorder C99147 Neonatal Research Network Terminology C26737 Cyanosis Cyanosis A bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced amount of oxygenated hemoglobin in the blood. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C2978 Cyst Cyst A sac-like closed membranous structure that may be empty or contain fluid or amorphous material. C36287 C99147 Neonatal Research Network Terminology C2975 Cystic Fibrosis Cystic Fibrosis A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C103233 Cystic Fibrosis with Meconium Ileus Cystic Fibrosis with Meconium Ileus A congenital metabolic detected in the neonatal period that is characterized by the presence of a meconium ileus. The disease affects the exocrine glands andis inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. C2975 Cystic Fibrosis C99147 Neonatal Research Network Terminology C3724 Cystic Hygroma Cystic Hygroma A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. C2978 Cyst C3262 Neoplasm C99147 Neonatal Research Network Terminology C99112 Cystic Periventricular Leukomalacia Cystic Periventricular Leukomalacia Necrosis and softening of the white matter around the ventricles in the brain associated with cystic changes. C99013 Periventricular Leukomalacia C99147 Neonatal Research Network Terminology C98910 Cytochrome-C Oxidase Deficiency Cytochrome-C Oxidase Deficiency A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C75012 Dandy-Walker Malformation Dandy-Walker Syndrome A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98911 Decreased Bone Density Decreased Bone Density A laboratory finding indicating the presence of lower than normal bone mineral density. C110937 Musculoskeletal Finding C99147 Neonatal Research Network Terminology C26740 Dehydration Dehydration A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis. A state characterized by lower than normal levels of water in the body. C9229 Systemic Disorder C99147 Neonatal Research Network Terminology C89330 Developmental Disorder Developmental Disorder A disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C84669 Dextrocardia Dextrocardia A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C101032 Dextrocardia Situs Solitus Dextrocardia Situs Solitus Dextrocardia, Normal Situs A congenital heart defect in which the heart is located in the right side and the other organs are in their normal position. C84669 Dextrocardia C99147 Neonatal Research Network Terminology C99096 Dextro-Transposition of the Great Arteries Dextro-Transposition of the Great Arteries D-Transposition of the Great Vessels|Dextro-Transposition of the Great Vessels A cyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery. C84742 Transposition of Great Vessels C99147 Neonatal Research Network Terminology C101185 Dextro-Transposition of the Great Vessels with Intact Ventricular Septum Dextro-Transposition of the Great Vessels with Intact Ventricular Septum D-Transposition of the Great Vessels with Intact Ventricular Septum A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles. C99096 Dextro-Transposition of the Great Arteries C99147 Neonatal Research Network Terminology C101186 Dextro-Transposition of the Great Vessels with Ventricular Septal Defect Dextro-Transposition of the Great Vessels with Ventricular Septal Defect D-Transposition of the Great Vessels with Ventricular Septal Defect A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with a pathologic opening between the cardiac ventricles. C99096 Dextro-Transposition of the Great Arteries C99147 Neonatal Research Network Terminology C43263 Diabetes Insipidus Diabetes Insipidus A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. A disorder characterized by excretion of large amounts of dilute urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C98912 Diaphragmatic Eventration Diaphragmatic Eventration A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C98913 Diastematomyelia Diastematomyelia A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C2989 DiGeorge Syndrome DiGeorge Syndrome DiGeorge Sequence|Sphrintzen|Velo-Cardio-Facial Syndrome A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C84673 Dilated Cardiomyopathy Dilated Cardiomyopathy Congestive Cardiomyopathy Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. C34830 Cardiomyopathy C99147 Neonatal Research Network Terminology C98914 Discordant Ventriculoarterial Connection Discordant Ventriculoarterial Connection A rare congenital cardiovascular abnormality in which the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C2991 Disease or Disorder Disease or Disorder Disease Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. C89505 Prenatal and Pediatric Terminology C99147 Neonatal Research Network Terminology C2992 Disseminated Intravascular Coagulation Disseminated Intravascular Coagulation A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. Excessive activation of the body's coagulation system resulting in systemic microvascular thrombi formation. C2902 Coagulation Defect|Coagulopathy C99147 Neonatal Research Network Terminology C98916 Double Outlet Right Ventricle Double Outlet Right Ventricle A rare congenital cardiovascular abnormality in which both the aorta and the pulmonary artery arise from the right ventricle. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C2993 Down Syndrome Down Syndrome A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C99110 Drug Induced Thrombocytopenia Drug Induced Thrombocytopenia Drug-Induced Immune Thrombocytopenia Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction. Abnormally low level of platelets in the blood associated with exposure to a pharmacologic agent. C3408 Thrombocytopenia C99147 Neonatal Research Network Terminology C35046 Substance Withdrawal Syndrome Drug Withdrawal A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. C9229 Systemic Disorder C99147 Neonatal Research Network Terminology C101045 Drug Induced Methemoglobinemia Drug-Induced Methemoglobinemia Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene). C98805 Acquired Methemoglobinemia C99147 Neonatal Research Network Terminology C81282 Dubowitz Score Dubowitz Score The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to determine an infant's gestational age and maturity. C118807 C99147 Neonatal Research Network Terminology C101025 Duodenal Atresia Duodenal Atresia Congenital Atresia of Duodenum A congenital malformation characterized by the absence of a normal opening in a part of the duodenum. C98828 Small Intestine Atresia C99147 Neonatal Research Network Terminology C101275 Duodenal Band Duodenal Band A pathologic fibrous band that impedes passage of intestinal contents through the duodenum. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C78260 Duodenal Stenosis Duodenal Stenosis Narrowing of the lumen of the duodenum. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98918 Duodenal Web Duodenal Web Partial or complete obstruction of the duodenal lumen due to the presence of a membranous web. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98915 Duplex Kidney Duplex Kidney Double Kidney|Double Renal Pelvis A congenital abnormality of the kidney characterized by the presence of two separate pelvicocaliceal systems with a single or duplex ureter. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C98917 Duplicated Ureter Duplicated Ureter Double Ureter A congenital abnormality characterized by the presence of two separate ureters draining a kidney. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C34554 Dwarfism Dwarfism Short stature that usually results from genetic mutations. Other causes include hormonal deficiencies and poor nutrition. C89330 Developmental Disorder C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C87071 Ear Dimple Ear Dimple Ear Pit|Periauricular Dimple A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C98919 Ear Tag Ear Tag Ear Tag|Periauricular Tag A small preauricular skin tag. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C92770 Early Deceleration Early Deceleration Early Fetal Heart Deceleration A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs at the same time as the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs at the same time as the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology C84681 Ebstein Anomaly Ebstein Anomaly Ebstein's Anomaly of Tricuspid Valve A rare congenital heart malformation characterized by apical displacement of the opening of the tricuspid valve. The defect involves both the right ventricle and the tricuspid valve, and can lead to cardiomyopathy and tachyarrhythmias. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C84683 Ectodermal Dysplasia Ectodermal Dysplasia A group of inherited disorders characterized by malformations of the structures that derive from the ectoderm, such as hair, teeth, nails and sweat glands. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C99113 Ectopic Atrial Tachycardia Ectopic Atrial Tachycardia A disorder characterized by an electrocardiographic finding of atrial tachycardia that does not originate from the sinoatrial node. C110938 Tachyarrhythmia C99147 Neonatal Research Network Terminology C75000 Ectrodactyly Ectrodactyly A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C3002 Edema Edema Accumulation of an excessive amount of fluid in cells or intercellular tissues. Accumulation of an excessive amount of fluid in cells or intercellular tissues. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C34568 Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility. C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C27120 Electrolyte Disorder Electrolyte Disorder Disorder of Electrolytes A metabolic disorder that is characterized by electrolyte imbalances (e.g., hyperkalemia, hypokalemia, and hypercalcemia). C3235 Metabolic Disease C99147 Neonatal Research Network Terminology C3004 Elliptocytosis Elliptocytosis A peripheral blood finding in which a large number of erythrocytes are shaped in an elliptical form. Elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the patient's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to hemolytic anemia. C36289 Hematopoietic System Finding C99147 Neonatal Research Network Terminology C84687 Encephalocele Encephalocele A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. C84923 Neural Tube Defect C99147 Neonatal Research Network Terminology C98920 Encephalomalacia Encephalomalacia Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation. C96413 Brain Disorder C99147 Neonatal Research Network Terminology C98921 Endemic Cretinism Endemic Cretinism Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C98922 Endocardial Fibroelastosis Endocardial Fibroelastosis A rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C3009 Endocrine System Disorder Endocrine System Disorder Disorder of Endocrine System A non-neoplastic or neoplastic disorder that affects the endocrine system. Representative examples of non-neoplastic disorders include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency. Representative examples of neoplastic disorders include carcinoid tumor, neuroendocrine carcinoma, and pheochromocytoma. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C35435 Enlarging Abdomen Enlarged Abdomen Increasing girth of the mid section of an individual. C92720 C99147 Neonatal Research Network Terminology C3492 Enzyme Deficiency Enzyme Deficiency Specific Enzyme Deficiency A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes. C3235 Metabolic Disease C99147 Neonatal Research Network Terminology C67383 Epidermolysis Bullosa Epidermolysis Bullosa An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids. C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C50555 Epidural Hemorrhage Epidural Hemorrhage Intracranial hemorrhage into the epidural space. C50438 Intracranial Hemorrhage C99147 Neonatal Research Network Terminology C98923 Epispadias Epispadias A rare congenital abnormality that mostly affects males. In males, it is characterized by the presence of the urethral opening in the dorsal surface of the penis. In females, this abnormality is even rarer and is characterized by the presence of an elongated urethra that has developed too far anteriorly. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C101039 Escobar Syndrome Escobar Syndrome A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant. C99267 Congenital Malformation Syndrome C99147 Neonatal Research Network Terminology C87072 Esophageal Atresia Esophageal Atresia Congenital Atresia of Esophagus A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98924 Esophageal Duplication Esophageal Duplication Congenital Duplication of Esophagus A congenital abnormality characterized by the presence of a duplicated segment of the esophagus. The duplicated segment may by tubular or cystic. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C79574 Esophageal Fistula Esophageal Fistula An abnormal communication between the esophagus and another organ or anatomic site. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C50693 Esophageal Perforation Esophageal Perforation Perforation of Esophagus The presence of a hole or other type of opening in the esophageal wall through which the contents of the esophagus can pass into the mediastinum. The most common cause of esophageal perforation is injury during a medical procedure such as esophagoscopy or placement of a naso-gastric tube; and pathologic process such as neoplasm or gastric reflux with ulceration. Less common causes include injuries from penetrating or blunt trauma or injury to the esophagus during an operation on another organ, mechanical problem such as violent retching or vomiting; ingestion of a foreign body or caustic agents. The condition often results in infection of the mediastinum and mediastinitis. C79470 Gastrointestinal Perforation C99147 Neonatal Research Network Terminology C53506 Esophageal Varices Esophageal Varices Abnormally dilated veins of the esophagus. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98925 Esophageal Web Esophageal Web A thin membrane that is present in the esophageal lumen. It is composed of mucosa and submucosa and it may be associated with Plummer-Vinson syndrome. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C9224 Esophagitis Esophagitis An acute or chronic inflammatory process affecting the esophageal wall. Inflammation of the esophagus as confirmed by histology. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C25214 Evaluation Evaluation Procedure Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. C25218 Intervention or Procedure C99147 Neonatal Research Network Terminology C34599 Excoriation Excoriation Excoriation of Skin Self-inflicted tearing or wearing off of skin. Self-inflicted tearing or wearing off of skin. C36281 Integumentary System Finding C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C43262 Exophthalmos Exophthalmos A protrusion of the eyeball from the socket. C99208 Eye Finding C99147 Neonatal Research Network Terminology C99208 Eye Finding Eye Finding Symptoms, physical examination results, and/or laboratory test results related to the eye. C3367 Finding C99147 Neonatal Research Network Terminology C84701 Fabry Disease Fabry Disease Fabry's Disease A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C26769 Facial Nerve Palsy Facial Nerve Palsy Facial Palsy Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve. C26733 Cranial Nerve Disorder C99147 Neonatal Research Network Terminology C101316 Facial Nerve Palsy Related to Trauma Facial Nerve Palsy Related to Trauma Facial Nerve Palsy due to Trauma Partial or complete paralysis of the facial muscles of one side of an individual's face that is caused by trauma. C26769 Facial Nerve Palsy C99147 Neonatal Research Network Terminology C26721 Hemophilia B Factor IX Deficiency Hereditary Factor IX Deficiency Disease An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX. C3093 Hemophilia C99147 Neonatal Research Network Terminology C98573 Factor V Leiden Factor V Leiden Factor V Leiden Mutation An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C117115 Fatty Acid Metabolism Disorder Fatty Acid Metabolism Disorder Disorder of Fatty Acid Metabolism A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. C97092 Lipid Metabolism Disorder C99147 Neonatal Research Network Terminology C26774 Femur Fracture Femur Fracture Fracture of Femur A traumatic or pathologic injury to the femur in which the continuity of the femur is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C92780 Fetal Alcohol Spectrum Disorder Fetal Alcohol Spectrum Disorder A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C84713 Fetal Alcohol Syndrome Fetal Alcohol Syndrome A teratogenic disorder observed in a newborn or child of a mother who consumed alcohol during pregnancy. Manifestations of the syndrome include low birth weight, atypical facies, microcephaly, failure to thrive, developmental defects, organ dysfunction, mental deficiencies, poor motor coordination and behavioral problems. A teratogenic disorder observed in a newborn or child of a mother who consumed alcohol during pregnancy. Manifestations of the syndrome include low birth weight, atypical facies, microcephaly, failure to thrive, developmental defects, organ dysfunction, mental deficiencies, poor motor coordination and behavioral problems. C92780 Fetal Alcohol Spectrum Disorder C99147 Neonatal Research Network Terminology C92782 Fetal Bradycardia Fetal Bradycardia A fetal heart rate below 110 bpm that is sustained for longer than 10 minutes. A fetal heart rate below 110 bpm that is sustained for longer than 10 minutes. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C92719 Fetal Disorder Fetal Disorder Disorder of Fetus A non-neoplastic or neoplastic disorder which occurs in the fetus. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C92786 Fetal Fibronectin Test Fetal Fibronectin Test Fetal Fibronectin Measurement A test for the presence of fetal fibronectin in the cervico-vaginal area that is used to predict preterm birth. A test for the presence of fetal fibronectin in the cervico-vaginal area that is used to predict preterm birth. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C92711 Fetal Finding Fetal Finding Any intrauterine symptom or result related to the fetus. C3367 Finding C99147 Neonatal Research Network Terminology C92788 Fetal Heart Acceleration Fetal Heart Acceleration Fetal Heart Rate Acceleration An abrupt increase is defined as an increase from the onset of acceleration to the peak in less than 30 seconds. To be called an acceleration, the peak must be greater than or equal to 15 bpm, and the acceleration must last greater than or equal to 15 seconds from the onset to return to baseline. An abrupt increase is defined as an increase from the onset of acceleration to the peak in less than 30 seconds. To be called an acceleration, the peak must be greater than or equal to 15 bpm, and the acceleration must last greater than or equal to 15 seconds from the onset to return to baseline. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C92789 Fetal Heart Deceleration Fetal Heart Deceleration A decrease in the fetal heart rate that has a duration of less than 10 minutes. A decrease from the baseline fetal heart rate that has a duration of less than 10 minutes. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C92715 Fetal Heart Finding Fetal Heart Finding An observation of the fetal heart that may or may not be abnormal. C92711 Fetal Finding C99147 Neonatal Research Network Terminology C92929 Fetal Heart Monitoring Fetal Heart Monitoring Fetal Heart Rate Monitoring The act of observing and recording the fetal heart rate for determining the baseline values or other abnormal findings. The act of observing and recording the fetal heart rate for determining the baseline values or other abnormal findings. C90341 Pediatric Intervention or Procedure C99147 Neonatal Research Network Terminology C92716 Fetal Heart Rate Fetal Heart Rate The number of fetal cardiac beats per minute. The number of fetal cardiac beats per minute. C49677 Heart Rate C99147 Neonatal Research Network Terminology C92790 Fetal Heart Rate Variability Fetal Heart Rate Variability Fluctuations in the baseline fetal heart rate, determined in a 10 minute window while excluding accelerations and decelerations. They are irregular in amplitude and frequency and are visually quantitated as the amplitude of the peak to trough in beats per minute. Sinusoidal patterns are also excluded. Fluctuations in the baseline fetal heart rate, determined in a 10 minute window while excluding accelerations and decelerations. They are irregular in amplitude and frequency and are visually quantitated as the amplitude of the peak to trough in beats per minute. Sinusoidal patterns are also excluded. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C98926 Fetal Heart Rhythm Fetal Heart Rhythm The recurrent, measured movements (rhythm) of a beating heart in a fetus. The recurrent, measured movements (rhythm) of a beating heart in a fetus. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C92791 Fetal Heart Tone Fetal Heart Tone The sounds of the fetal heart. Auscultated fetal heart sounds. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C92792 Fetal Heart Tone Location Fetal Heart Tone Location The site of fetal cardiac sounds that can be distinctly detected in relation to the maternal abdomen. The site of fetal heart sounds in relation to the maternal abdomen. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C98927 Fetal Hydantoin Syndrome Fetal Hydantoin Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development. A teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C50564 Fetal Hypoxia Fetal Hypoxia Hypoxia in utero, caused by conditions such as inadequate placental function (often abruptio placentae), preeclamptic toxicity, prolapse of the umbilical cord, or complications from anesthetic administration. C3890 Hypoxia C99147 Neonatal Research Network Terminology C98928 Fetal Methotrexate Syndrome Fetal Methotrexate Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to methotrexate during pregnancy. Manifestations of the syndrome include craniofacial, digital, and skeletal malformations. A teratogenic disorder observed in a newborn or child of a mother who was exposed to methotrexate during pregnancy. Manifestations of the syndrome include craniofacial, digital, and skeletal malformations. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C103236 Fetal Neurodevelopmental Disorder Fetal Neurodevelopmental Disorder A fetal affliction that has a neurological basis and manifests as a developmental disability. C89338 Neurodevelopmental Disorder C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C92794 Fetal Pulse Oximetry Fetal Pulse Oximetry A method to assess fetal oxygenation status during labor and delivery using a noninvasive reflectance pulse oximeter. C90341 Pediatric Intervention or Procedure C99147 Neonatal Research Network Terminology C98929 Fetal Retinoid Syndrome Fetal Retinoid Syndrome Fetal Isotretinoin Syndrome|Retinoic Acid Embryopathy A teratogenic disorder observed in a newborn or child of a mother who was exposed to retinoids during pregnancy. Manifestations include growth delay, skull, facial, heart, and central nervous system malformations. A teratogenic disorder observed in a newborn or child of a mother who was exposed to retinoids during pregnancy. Manifestations include growth delay, skull, facial, heart, and central nervous system malformations. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C92796 Fetal Tachycardia Fetal Tachycardia A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. C92715 Fetal Heart Finding C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C98930 Fetal Valproate Syndrome Fetal Valproate Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to valproic acid during pregnancy. Manifestations include musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features. A teratogenic disorder observed in a newborn or child of a mother who was exposed to valproic acid during pregnancy. Manifestations include musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C98906 Fetal Warfarin Syndrome Fetal Warfarin Syndrome Fetal Coumadin Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C3043 Fibrosarcoma Fibrosarcoma Malignant Fibromatous Neoplasm A malignant mesenchymal tumor affecting soft tissues and bone. It is classified as adult or infantile. Infantile fibrosarcomas generally have a much more favorable prognosis than adult fibrosarcomas. C9305 Cancer|Malignant Neoplasm C9118 Sarcoma C99147 Neonatal Research Network Terminology C26938 Fibula Fracture Fibula Fracture Fracture of Fibula A traumatic or pathologic injury to the femur in which the continuity of the fibula is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C3046 Fracture Fracture Fracture of Bone A traumatic injury to the bone in which the continuity of the bone is broken. A traumatic injury to the bone in which the continuity of the bone is broken. C3671 Injury C99147 Neonatal Research Network Terminology C102975 Fracture of Clavicle Related to Birth Fracture of Clavicle Related to Birth Fracture of Clavicle Related to Birth Trauma An injury sustained during the birthing process in which the continuity is broken in the clavicle. A broken clavicle sustained during the birthing process. C101317 Fracture of Long Bone Related to Birth C99147 Neonatal Research Network Terminology C101317 Fracture of Long Bone Related to Birth Fracture of Long Bone Related to Birth Fracture of Long Bone Related to Birth Trauma An injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width. A breakage in any of the elongated bones of the extremities sustained during the birthing process. C3046 Fracture C101035 Birth Injury|Neonatal Injury Related to Birth C99147 Neonatal Research Network Terminology C101318 Fracture of Skull Related to Birth Fracture of Skull Related to Birth Fracture of Skull Related to Birth Trauma An injury sustained during the birthing process in which the continuity is broken in the skull. A broken skull bone sustained during the birthing process. C101035 Birth Injury|Neonatal Injury Related to Birth C50745 Skull Fracture C99147 Neonatal Research Network Terminology C98931 Freeman-Sheldon Syndrome Freeman-Sheldon Syndrome A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties. C84572 Arthrogryposis C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98932 Fryns Syndrome Fryns Syndrome A rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C61274 Fucosidosis Fucosidosis An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances. C3101 Genetic Disorder C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C101033 Functional Bowel Obstruction Functional Intestinal Obstruction Intestinal Obstruction, Functional The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular. C9175 Bowel Obstruction C99147 Neonatal Research Network Terminology C84723 Galactosemia Galactosemia An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C26781 Gastroesophageal Reflux Disease Gastroesophageal Reflux Disease A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. Reflux of stomach contents with symptoms and/or complications from the reflux act. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C2990 Gastrointestinal Disorder Gastrointestinal Disorder Digestive System Disorder|Disorder of Digestive System A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C48592 Gastrointestinal Hemorrhage Gastrointestinal Hemorrhage Bleeding originating from any part of the gastrointestinal tract. Hemorrhage originating at any site located within the gastrointestinal tract. C3368 Gastrointestinal System Signs and Symptoms C26791 Hemorrhage C99147 Neonatal Research Network Terminology C79470 Gastrointestinal Perforation Gastrointestinal Perforation A rupture in the wall of any structure of the gastrointestinal system caused by traumatic or pathologic processes. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C3368 Gastrointestinal System Signs and Symptoms Gastrointestinal System Signs and Symptoms Signs and symptoms associated with disturbances within the gastrointestinal system, which includes the stomach, intestines and all associated organs that aid in digestion. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C84725 Gastroschisis Gastroschisis A congenital birth defect characterized by the exposure of the fetal intestines outside the abdominal wall through an abdominal wall opening. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C61268 Gaucher Disease Gaucher Disease Glucosylceramide Beta-Glucosidase Deficiency An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia. C97092 Lipid Metabolism Disorder C99147 Neonatal Research Network Terminology C3101 Genetic Disorder Genetic Disorder Hereditary Disease Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C15709 Genetic Testing Genetic Testing Genetic Test The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C103184 Genu Recurvatum Genu Recurvatum Hyperextension Deformity of Knee An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. C110937 Musculoskeletal Finding C99147 Neonatal Research Network Terminology C3708 Germ Cell Tumor Germ Cell Tumor A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. C3262 Neoplasm C99147 Neonatal Research Network Terminology C99138 Germinal Matrix Hemorrhage of the Newborn Germinal Matrix Hemorrhage of Newborn Grade 1 Intraventricular (Nontraumatic) Hemorrhage of Fetus and Newborn|Intraventricular (Nontraumatic) Hemorrhage, Grade 1, of Fetus and Newborn Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles of a newborn. Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C81252 Gesell Developmental Schedule Gesell Developmental Schedule A scale used as an instrument to assess a child's motor and language development, as well as personal-social and adaptive behaviors. C81314 Newborn Behavioral Examination C99147 Neonatal Research Network Terminology C4371 Gestational Hypertension Gestational Hypertension Pregnancy-Induced Hypertension A blood pressure elevation after 20 weeks of gestation in the absence of either proteinuria or systemic findings like thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema or the new-onset of cerebral or visual disturbances. A blood pressure elevation after 20 weeks of gestation in the absence of either proteinuria or systemic findings like thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema or the new-onset of cerebral or visual disturbances. C3117 Hypertension C34941 Pregnancy Complication C99147 Neonatal Research Network Terminology C26782 Glaucoma Glaucoma Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. C26767 C99147 Neonatal Research Network Terminology C3059 Glioma Glioma A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C98933 Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency G-6-PD Variant Enzyme Deficiency Anemia|G6PD An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C99101 Glutaric Acidemia Type 1 Glutaric Aciduria, Type 1 A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia. C97090 Amino Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C99102 Glutaric Acidemia Type 2 Glutaric Aciduria, Type 2 A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C84937 Glycine Encephalopathy Glycine Encephalopathy Non-Ketotic Hyperglycinemia An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures. C97090 Amino Acid Metabolism Disorder C26920 Encephalopathy C99147 Neonatal Research Network Terminology C61272 Glycogen Storage Disease Glycogen Storage Disease An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C84740 Goldenhar Syndrome Goldenhar Syndrome A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate. C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology C26786 Gonadal Disorder Gonadal Disorder Disorder of Gonads A non-neoplastic or neoplastic disorder that affects the testis or the ovary. C3009 Endocrine System Disorder C103186 Sexual Differentiation Disorder C99147 Neonatal Research Network Terminology C98291 Gonadal Teratoma Gonadal Teratoma Teratoma, Gonads A teratoma that arises from the testis or ovary. C3262 Neoplasm C99147 Neonatal Research Network Terminology C98661 Grade I Vesicoureteral Reflux Grade I Vesicoureteral Reflux Vesicoureteric Reflux, Grade I Vesicoureteral reflux in which there is urine reflux into the ureter only. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C98662 Grade II Vesicoureteral Reflux Grade II Vesicoureteral Reflux Vesicoureteric Reflux, Grade II Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. There is no dilatation of the ureter and the calyces. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C98663 Grade III Vesicoureteral Reflux Grade III Vesicoureteral Reflux Vesicoureteric Reflux, Grade III Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Mild dilatation of the ureter and the calyces is present. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C98664 Grade IV Vesicoureteral Reflux Grade IV Vesicoureteral Reflux Vesicoureteric Reflux, Grade IV Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Moderate dilatation of the ureter and the calyces is present. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C98665 Grade V Vesicoureteral Reflux Grade V Vesicoureteral Reflux Vesicoureteric Reflux, Grade V Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Severe tortuosity and dilatation of the ureter and the calyces are present. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C102955 Great Blood Vessel Great Blood Vessel Any of the major arteries or veins attached to the cardiac atria or ventricles. This includes the aorta, superior and inferior vena cava and the pulmonary arteries and veins. C32221 Body Part C99147 Neonatal Research Network Terminology C99137 Great Vessels Abnormality Great Vessels Abnormality Great Vessel Abnormality A congenital vascular abnormality that affects the great vessels and/or aortic arch. Representative examples include double aortic arch, aortic coarctation, and absence of a pulmonary artery. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C98934 Harlequin Ichthyosis Harlequin Ichthyosis A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures. C97174 Congenital Skin Disorder C99147 Neonatal Research Network Terminology C84748 Hartnup Disease Hartnup Disease An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C81255 Head Circumference Head Circumference A circumferential measurement of the head at the widest point, which is traditionally above the eyebrows. The widest measurement of the head, when it is measured at its occipitofrontal circumference. C25334 Length C99147 Neonatal Research Network Terminology C34660 Head Injury Head Injury Injury of Head A traumatic injury to the head. C3671 Injury C99147 Neonatal Research Network Terminology C3079 Heart Disorder Heart Disorder Heart Disease A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. C2931 Cardiovascular Disorder C99147 Neonatal Research Network Terminology C84480 Heart Murmur Heart Murmur A periodic humming or blowing sound heard on auscultation of the heart that can indicate the presence of cardiac disease; murmurs are the result of vibrations caused by the turbulent flow of blood in the heart or great vessels. Murmurs are characterized according to the area of generation (mitral, aortic, tricuspid, or pulmonary) and according to the period of the cycle (systolic or diastolic). C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C49677 Heart Rate Heart Rate The number of heartbeats per unit of time, usually expressed as beats per minute. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C81309 Heart Rate Score Heart Rate Score A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C50797 Valvular Regurgitation Heart Valve Regurgitation Regurgitation of the blood of the heart valves owning to imperfect closing, insufficiency or incompetency of the valves. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C84750 HELLP Syndrome HELLP Syndrome Hemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome Severe preeclampsia associated with any of the following findings: thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. Severe preeclampsia associated with any of the following findings: thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. C85021 Preeclampsia C99147 Neonatal Research Network Terminology C3084 Hemangioendothelioma Hemangioendothelioma A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics. C3262 Neoplasm C99147 Neonatal Research Network Terminology C3085 Hemangioma Hemangioma A benign vascular neoplasm characterized by the formation of capillary-sized or cavernous vascular channels. A benign, vascular neoplasm characterized by the formation of capillary-sized vascular channels. C3262 Neoplasm C99147 Neonatal Research Network Terminology C37964 Hematemesis Hematemesis Vomiting blood. C3442 Vomiting C99147 Neonatal Research Network Terminology C98936 Hematochezia Hematochezia The passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage. The presence of fresh blood mixed in the fecal matter; usually as a result of lower gastrointestinal tract hemorrhage. C48592 Gastrointestinal Bleed|Gastrointestinal Hemorrhage C99147 Neonatal Research Network Terminology C49286 Hematology Test Hematology Test Blood Test|Hematology Procedure A laboratory test to measure hematopoietic components and investigate hematologic disorders in a blood sample. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C36289 Hematopoietic System Finding Hematopoietic System Finding Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system. C3367 Finding C99147 Neonatal Research Network Terminology C88541 Hemihypertrophy Hemihypertrophy Hemi-hypertrophy A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C34674 Hemimelia Hemimelia A congenital malformation characterized by the partial or total absence of the distal half of a limb. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C84481 Hemochromatosis Hemochromatosis An inherited metabolic disorder characterized by iron accumulation in the tissues. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C92258 Hemoglobin A Measurement Hemoglobin A Measurement The determination of the amount of hemoglobin A present in a sample. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology C92259 Hemoglobin A2 Measurement Hemoglobin A2 Measurement The determination of the amount of hemoglobin A2 present in a sample. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology C103920 Hemoglobin Barts Hemoglobin Barts Bart's Hemoglobinopathy A severe and rare form of alpha thalassemia characterized by the absence of alpha globin chains. It results in hydrops fetalis, severe anemia, hepatosplenomegaly, heart defects, and genitourinary abnormalities. It leads to death in utero or shortly thereafter. C35069 Thalassemia C99147 Neonatal Research Network Terminology C81279 Hemoglobin S to Total Hemoglobin Ratio Measurement Hemoglobin S to Total Hemoglobin Ratio Measurement Hemoglobin S Measurement The determination of the ratio of Hemoglobin S compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology C103845 Hemoglobin Variant Measurement Hemoglobin Variant Measurement A test to measure the variants of hemoglobin. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology C3092 Hemoglobinopathy Hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C34376 Hemolytic Anemia Hemolytic Anemia Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. C2869 Anemia C99147 Neonatal Research Network Terminology C101218 Hemolytic Anemia due to Membrane Defect Hemolytic Anemia due to Membrane Defect Anemia due to Membrane Defect A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. C34376 Hemolytic Anemia C99147 Neonatal Research Network Terminology C3093 Hemophilia Hemophilia A deficiency or abnormality of a blood coagulation factor characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage, Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (factor VIII deficiency) hemophilia B or Christmas disease (factor IX deficiency), and hemophilia C (factor XI deficiency). In individuals without hereditary hemophilia A, factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in a condition known as 'acquired hemophilia.' Approximately 10 % of patients with acquired hemophilia have an underlying malignancy. C103172 Congenital Bleeding Disorder C99147 Neonatal Research Network Terminology C27146 Hemophilia A Hemophilia A Factor VIII Deficiency|Hereditary Factor VIII Deficiency Disease An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an x-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births. C3093 Hemophilia C99147 Neonatal Research Network Terminology C26791 Hemorrhage Hemorrhage The flow of blood from a ruptured blood vessel. Loss of blood. C2931 Cardiovascular Disorder C99147 Neonatal Research Network Terminology C99111 Heparin Induced Thrombocytopenia Heparin-Induced Thrombocytopenia A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. A substantial decrease in the platelet count associated with heparin therapy. C99110 Drug Induced Thrombocytopenia|Drug-Induced Thrombocytopenia C99147 Neonatal Research Network Terminology C35611 Hepatic Arteriovenous Malformation Hepatic Arteriovenous Malformation Arteriovenous Malformation of Liver An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the liver. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99147 Neonatal Research Network Terminology C3728 Hepatoblastoma Hepatoblastoma A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well. A malignant neoplasm of embryonal origin arising within the liver C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C98942 Hereditary Coagulation Factor Deficiency Hereditary Coagulation Factor Deficiency An inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding. C103172 Congenital Bleeding Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C97075 Hereditary Connective Tissue Disorder Hereditary Connective Tissue Disorder Congenital Connective Tissue Disorder|Connective Tissue Hereditary Disorder An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. C2849 Congenital Abnormality|Congenital Malformation C26729 Connective Tissue Disorder C99147 Neonatal Research Network Terminology C98937 Hereditary Factor I Deficiency Hereditary Factor I Deficiency Disease An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C26799 Hereditary Factor II Deficiency Hereditary Factor II Deficiency Disease A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding. C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C98938 Hereditary Factor V Deficiency Hereditary Factor V Deficiency Disease A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding. C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C98939 Hereditary Factor VII Deficiency Hereditary Factor VII Deficiency Disease A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding. C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C98940 Hereditary Factor X Deficiency Hereditary Factor X Deficiency Disease A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor X, resulting in bleeding. C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C84705 Hereditary Factor XI Deficiency Disease Hereditary Factor XI Deficiency Disease A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be asymptomatic or manifest with bleeding. C3101 Genetic Disorder C3093 Hemophilia C99147 Neonatal Research Network Terminology C26770 Hereditary Factor XII Deficiency Disease Hereditary Factor XII Deficiency Disease A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding. C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C98941 Hereditary Factor XIII Deficiency Hereditary Factor XIII Deficiency Disease A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor XIII, resulting in bleeding. C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C84720 Hereditary Fructose Intolerance Hereditary Fructose Intolerance Fructose-1,6-Bisphosphate Aldolase B Deficiency A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure. C3101 Genetic Disorder C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C98944 Hereditary Orotic Aciduria Hereditary Orotic Aciduria An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. C3101 Genetic Disorder C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C98943 Hereditary Pyropoikilocytosis Hereditary Pyropoikilocytosis An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C117273 Heterotaxy Syndrome Heterotaxy Syndrome Heterotaxia Syndrome A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. C36287 C99147 Neonatal Research Network Terminology C101326 Heterotaxy Syndrome with Asplenia Heterotaxy Syndrome with Asplenia Heterotaxy, Asplenia A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; in this manifestation of the disorder, the speen is absent. C87083 Heterotaxy C99147 Neonatal Research Network Terminology C101325 Heterotaxy Syndrome with Polysplenia Heterotaxy Syndrome with Polysplenia Heterotaxy, Polysplenia A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this manifestation of the disorder presents with many accessory spleens instead of one. C87083 Heterotaxy C99147 Neonatal Research Network Terminology C98945 Hiatal Hernia Hiatal Hernia Herniation of the upper part of the stomach through the diaphragm. C34687 Diaphragmatic Hernia C99147 Neonatal Research Network Terminology C98946 High Molecular Weight Kininogen Deficiency High Molecular Weight Kininogen Deficiency A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. C27215 Coagulation Factor Deficiency C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C87169 High Pitched Cry High Pitched Cry An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes. An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C34698 Hip Dislocation Hip Dislocation Dislocated Hip|Dislocation of Hip Joint A congenital or traumatic abnormality in which the femoral head slips out of the acetabulum. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C34700 Hirschsprung Disease Hirschsprung Disease Hirschsprung's Disease A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C3106 Histiocytosis Histiocytosis Histiocytic Syndrome A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. C3262 Neoplasm C99147 Neonatal Research Network Terminology C84523 HMG-CoA Lyase Deficiency HMG-CoA Lyase Deficiency Deficiency of Hydroxymethylglutaryl-CoA Lyase|Hydroxymethylglutaric Aciduria|Hydroxymethylglutaryl-CoA Lyase Deficiency A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma. C97090 Amino Acid Metabolism Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98842 Holocarboxylase Synthetase Deficiency Holocarboxylase Synthetase Deficiency Neonatal Multiple Carboxylase Deficiency A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C74988 Holoprosencephaly Holoprosencephaly Holoprosencephaly Sequence A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C84765 Homocystinuria Homocystinuria An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. C97090 Amino Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C74742 Hormone Measurement Hormone Measurement The determination of the amount of hormone present in a sample. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C98947 Horseshoe Kidney Horseshoe Kidney A congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C75387 Human Chorionic Gonadotropin Measurement Human Chorionic Gonadotropin Measurement A laboratory test to detect the amount of human chorionic gonadotropin in a biospecimen. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C26795 Humerus Fracture Humerus Fracture Fracture of Humerus A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C98949 Hydranencephaly Hydranencephaly A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C3111 Hydrocephalus Hydrocephalus A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. Abnormal increase of cerebrospinal fluid in the ventricles of the brain.|An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain. C96413 Brain Disorder C99147 Neonatal Research Network Terminology C84767 Hydrops Fetalis Hydrops Fetalis A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C98950 Hyperammonemia Hyperammonemia A laboratory test result indicating increased levels of ammonia in the blood. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C27088 Hyperbilirubinemia Hyperbilirubinemia Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. Abnormally high level of bilirubin in the blood. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C37968 Hyperkalemia Hyperkalemia Higher than normal levels of potassium in the circulating blood; associated with kidney failure or sometimes with the use of diuretic drugs. Abnormally high level of potassium in the blood. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C37969 Hypermagnesemia Hypermagnesemia Higher than normal levels of magnesium in the circulating blood. Abnormally high level of magnesium in the blood. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C101229 Hypernatremic Dehydration Hypernatremic Dehydration Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk. C26740 Dehydration C99147 Neonatal Research Network Terminology C48259 Hyperparathyroidism Hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. Overproduction of parathyroid hormone. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C3123 Hyperthyroidism Hyperthyroidism Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. Overproduction of thyroid hormone. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C98952 Hypertrophic Pyloric Stenosis Hypertrophic Pyloric Stenosis An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. Narrowing of the pyloric channel, the opening from the stomach to the duodenum, caused by enlargement and thickening of the circular muscular layer surrounding this opening. C34966 Pyloric Stenosis C99147 Neonatal Research Network Terminology C37973 Hypocalcemia Hypocalcemia Lower than normal levels of calcium in the circulating blood. Abnormally low level of calcium in the blood.|Hypocalcaemia is an electrolyte disturbance in which the serum calcium levels in the blood are low (less than 2.1 mmol/L). C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C37975 Hypomagnesemia Hypomagnesemia Lower than normal levels of magnesium in the circulating blood. Abnormally low level of magnesium in the blood.|Hypomagnesemia is an electrolyte disturbance in which there is an abnormally low level of magnesium in the blood (less than 0.7 mmol/L) C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C37976 Hyponatremia Hyponatremia Lower than normal levels of sodium in the circulating blood. Abnormally low level of sodium in the blood.|Hyponatremia is an electrolyte disturbance in which the sodium concentration in the serum is lower than normal. Sodium homeostasis is vital to the normal physiologic function of cells. Hyponatremia is defined as a serum level of less than 135 mEq/L and is considered severe when the serum level is below 125 mEq/L. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C78350 Hypoparathyroidism Hypoparathyroidism An endocrine disorder characterized by decreased production of parathyroid hormone by the parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails, cataracts, tetany, and convulsions. Abnormally low levels of parathyroid hormone. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C26798 Hypophosphatasia Hypophosphatasia A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C98894 Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome A rare congenital cardiovascular disorder characterized by severe underdevelopment of the left side of the heart. Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy. C95834 Congenital Heart Disease C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C99053 Hypoplastic Right Heart Syndrome Hypoplastic Right Heart Syndrome Right Hypoplastic Heart Syndrome A rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment. C95834 Congenital Heart Disease C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C40341 Hypospadias Hypospadias A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C3128 Hypotension Hypotension Low Blood Pressure Blood pressure that is abnormally low. Abnormally low blood pressure, which is usually symptomatic. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C26800 Hypothyroidism Hypothyroidism Abnormally low levels of thyroid hormone. Abnormally low levels of thyroid hormone. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C87070 Hypotonia Hypotonia Poor Muscle Tone A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching. A condition characterized by decreased resistance to passive stretching and diminished muscle activity.|Abnormally low muscle tone. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C3890 Hypoxia Hypoxia A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). A condition in which there is low oxygen in the tissues. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C35549 Hypoxic Ischemic Encephalopathy Hypoxic Ischemic Encephalopathy HIE Ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures. Injury to the central nervous system that occurs when there is insufficient delivery of oxygen to all or part of the brain. C26920 Encephalopathy C99147 Neonatal Research Network Terminology C84776 Ichthyosis Ichthyosis A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe. C3371 Skin Disorder C99147 Neonatal Research Network Terminology C101026 Ileal Atresia Ileal Atresia Congenital Atresia of Ileum A congenital malformation characterized by the absence of a normal opening in a part of the ileum. C98828 Small Intestine Atresia C99147 Neonatal Research Network Terminology C101276 Ileal Band Ileal Band A pathologic fibrous band that impedes passage of intestinal contents through the ileum. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C78355 Ileal Perforation Ileal Perforation Perforation of Ileum A rupture in the ileal wall due to traumatic or a pathologic processes. C39611 Intestinal Perforation C99147 Neonatal Research Network Terminology C98953 Ileal Web Ileal Web The formation of tissue in the lumen of the ileum that results in partial obstruction. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C99115 Immature Retinal Vasculature Immature Retinal Vasculature A finding that indicates the presence of immature retinal vessels as a result of prematurity. Retinal vessels in premature infants which do not complete their normal growth. For the purpose of defining the location, three concentric zones were defined. Since retinal vascular development proceeds from the optic nerve to the ora serrata, the zones are centered on the optic disc rather than the macula. C99208 Eye Finding C99147 Neonatal Research Network Terminology C99117 Immature Retinal Vasculature in Zone 1 Immature Retinal Vasculature in Zone 1 A finding that indicates the presence of immature retinal vessels in zone 1 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 1, a circle that is centered on the optic nerve and extends peripherally twice the distance from the center of the optic disc to the center of the macula.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone I is a circle, the radius of which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. C99115 Immature Retinal Vasculature C99147 Neonatal Research Network Terminology C99118 Immature Retinal Vasculature in Zone 2 Immature Retinal Vasculature in Zone 2 A finding that indicates the presence of immature retinal vessels in zone 2 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 2, a circle surrounding zone 1 and extending peripherally to the nasal ora serrata.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone II extends centrifugally from the edge of zone I to the nasal ora serrata. C99115 Immature Retinal Vasculature C99147 Neonatal Research Network Terminology C99119 Immature Retinal Vasculature in Zone 3 Immature Retinal Vasculature in Zone 3 A finding that indicates the presence of immature retinal vessels in zone 3 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 3, the residual temporal crescent of retina anterior to zone 2.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone III is the residual crescent of retina anterior to zone II. C99115 Immature Retinal Vasculature C99147 Neonatal Research Network Terminology C101312 Immature Retinopathy of Prematurity Immature Retinopathy of Prematurity Retinopathy of Prematurity, Immature An immature state in which retinopathy of prematurity cannot be established. Retinopathy of prematurity occurs in premature infants who are born before the retinal vessels complete their normal growth. It can result in disorganized and abnormal growth of retinal blood vessels, which may lead to scarring and retinal detachment.|Retinopathy of prematurity occurs in premature infants who are born before the retinal vessels complete their normal growth. It results in disorganized growth of retinal blood vessels, which may lead to scarring and retinal detachment. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C3507 Immune System Disorder Immune System Disorder Disorder of Immune System|Immune Disorder A disorder resulting from an abnormality in the immune system. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C84784 Imperforate Anus Imperforate Anus Anal Atresia A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C99121 In Utero Bowel Perforation In Utero Bowel Perforation Bowel perforation in utero that may result in meconium peritonitis. Bowel perforation in utero that may result in meconium peritonitis. C39611 Intestinal Perforation C99147 Neonatal Research Network Terminology C84787 Incontinentia Pigmenti Incontinentia Pigmenti Incontinentia Pigmenti Syndrome A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation. C97174 Congenital Skin Disorder C99147 Neonatal Research Network Terminology C99124 Increased Bone Density Increased Bone Density A finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and Paget disease. C110937 Musculoskeletal Finding C99147 Neonatal Research Network Terminology C85038 Infant Failure to Thrive Infant Failure to Thrive Failure to Thrive in Infant|Failure to Thrive A clinical finding indicating less than normal growth in infancy. Failing to gain weight as expected demonstrated by not following a normative growth curve, or significant decrease in weight percentile over time. C89330 Developmental Disorder C99147 Neonatal Research Network Terminology C98955 Infant of Diabetic Mother Infant of Diabetic Mother IDM|Syndrome of Infant of Diabetic Mother An infant that was born to a mother who persistently had high glucose blood levels during pregnancy. The infants of diabetic mothers are large for their gestational age and may develop hypoglycemic episodes soon after birth. C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C25738 Infarction Infarct A localized pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C26726 Infectious Disorder Infectious Disease A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C79598 Infectious Meningitis Infectious Meningitis Infective Meningitis Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. C26828 Meningitis C99147 Neonatal Research Network Terminology C34690 Inguinal Hernia Inguinal Hernia The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. The protrusion of the contents of the abdominal cavity into the inguinal canal. C34685 Hernia C99147 Neonatal Research Network Terminology C3671 Injury Injury Traumatic Injury Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. C3367 Finding C99147 Neonatal Research Network Terminology C110943 Musculoskeletal Injury Injury of Musculoskeletal System Damage to the muscles, bones and their supportive structral attachments. C3671 Injury C99147 Neonatal Research Network Terminology C36281 Integumentary System Finding Integumentary System Finding Skin Finding Symptoms, physical examination results, and/or laboratory test results related to the integumentary system. C3367 Finding C99147 Neonatal Research Network Terminology C87087 Intercostal Retractions Intercostal Retractions Intercostal Recession The marked inward movement of the muscles between the ribs during inhalation; they indicate that there is reduced pressure in the chest cavity and can be a sign of breathing difficulties. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C92816 Intermittent Deceleration Intermittent Deceleration Fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe. Fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology C98958 Interrupted Aortic Arch Interrupted Aortic Arch A rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C34571 Interstitial Emphysema Interstitial Emphysema Interstitial Emphysema of Lung|Pulmonary Interstitial Emphysema Pathologic accumulation of air in the interstitium of the lungs. It is caused by the rupture of alveoli and terminal bronchioles. It is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. C3198 Lung Disorder C99147 Neonatal Research Network Terminology C25218 Intervention or Procedure Intervention or Procedure Procedure An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects. C89505 Prenatal and Pediatric Terminology C99147 Neonatal Research Network Terminology C98960 Intestinal Duplication Intestinal Duplication Congenital Duplication of Intestine|Duplication of Bowel A rare congenital abnormality characterized by the presence of a duplicated segment of the intestine. The duplicated segment is cystic. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C34732 Intestinal Fistula Intestinal Fistula Fistula of Intestine An abnormal communication between the small or large intestine and another organ or cavity. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98961 Intestinal Malrotation Intestinal Malrotation Congenital Malrotation of Intestine A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C39611 Intestinal Perforation Intestinal Perforation Perforation of Intestine A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. C79470 Gastrointestinal Perforation C99147 Neonatal Research Network Terminology C98962 Intestinal Stricture Intestinal Stricture Stricture of Intestine Fibrosis of the wall of a segment of the intestine that leads to intestinal lumen narrowing. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98963 Intestinal Volvulus Intestinal Volvulus Twisting of a loop of bowel that results in intestinal obstruction. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C3635 Intra-Abdominal Hemangioma Intra-Abdominal Hemangioma Hemangioma of Intra-Abdominal Structure A hemangioma arising from organs within the abdominal cavity. C3085 Hemangioma C99147 Neonatal Research Network Terminology C34458 Intracranial Aneurysm Intracranial Aneurysm A congenital or acquired aneurysm within the cranium. C26693 Aneurysm C99147 Neonatal Research Network Terminology C50438 Intracranial Hemorrhage Intracranial Hemorrhage Bleeding within the cranium. C2938 Cerebrovascular Disease C26791 Hemorrhage C99147 Neonatal Research Network Terminology C99140 Intraventricular Hemorrhage of the Newborn with Ventricular Dilatation Intraventricular Hemorrhage of the Newborn with Ventricular Dilatation Grade 3 Intraventricular (Nontraumatic) Hemorrhage of Fetus and Newborn|Intraventricular (Nontraumatic) Hemorrhage, Grade 3, of Fetus and Newborn Bleeding into the lateral cerebral ventricles of a newborn infant with ventricular dilatation directly attributable to the acute bleeding. Bleeding into the lateral cerebral ventricles of a newborn infant with ventricular dilatation directly attributable to the acute bleeding. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C99139 Intraventricular Hemorrhage of the Newborn without Ventricular Dilatation Intraventricular Hemorrhage of the Newborn without Ventricular Dilatation Grade 2 Intraventricular (Nontraumatic) Hemorrhage of Fetus and Newborn|Intraventricular (Nontraumatic) Hemorrhage, Grade 2, of Fetus and Newborn Bleeding into the lateral cerebral ventricles of a newborn infant without acute ventricular dilatation. Bleeding into the lateral cerebral ventricles of a newborn infant without acute ventricular dilatation. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C103183 In utero Drug Withdrawal In-utero Drug Withdrawal Drug withdrawal symptoms in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence. A substance-abuse withdrawal syndrome in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence. Signs and symptoms are characteristic of withdrawal syndromes and may affect fetal growth. C92719 Fetal Disorder C35046 Drug Withdrawal C99147 Neonatal Research Network Terminology C87089 Irregular Respiration Irregular Respiration Irregular Breathing A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C103225 Ischemic Necrosis Ischemic Necrosis Loss of vascularization and tissue death caused by the disruption in the arterial access. Common causes include trauma due to accidents, insect or reptile bites, severe cold exposure or pathological conditions such as infarctions or blood dyscrasias. C9229 Systemic Disorder C99147 Neonatal Research Network Terminology C98964 Isovaleric Acidemia Isovaleric Acidemia Isovaleryl-CoA Dehydrogenase Deficiency A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma. C3101 Genetic Disorder C101334 Organic Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C3143 Jaundice Jaundice Yellow pigmentation of the skin, mucous membranes, and the eyes due to hyperbilirubinemia. Causes include liver disease, biliary tract obstruction, and hemolysis. Yellowish pigmentation of the skin, mucous membranes, and the eyes. C3368 Gastrointestinal System Signs and Symptoms C36281 Integumentary System Finding C99147 Neonatal Research Network Terminology C101027 Jejunal Atresia Jejunal Atresia Congenital Atresia of Jejunum A congenital malformation characterized by the absence of a normal opening in a part of the jejunum. C98828 Small Intestine Atresia C99147 Neonatal Research Network Terminology C101277 Jejunal Band Jejunal Band A pathologic fibrous band that impedes passage of intestinal contents through the jejunum. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98966 Jejunal Web Jejunal Web The formation of tissue in the lumen of the jejunum that results in partial obstruction. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C25215 Karyotype Karyotype The assessment of the chromosomal morphology and number in somatic cells of an individual. The assessment of the chromosomal morphology and number in somatic cells of an individual. C15709 Genetic Testing C99147 Neonatal Research Network Terminology C84799 Kernicterus Kernicterus Bilirubin Encephalopathy A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin. A condition characterized by sensorineural hearing impairment, choreoathetoid movements, paralysis of upward gaze and hypoplasia of dental enamel due bilirubin deposition in the grey matter of the central nervous system as a consequence of increased levels of unconjugated bilirubin in the serum.|Neonatal encephalopathy associated with excessive accumulation of bilirubin in the brain. C26920 Encephalopathy C99147 Neonatal Research Network Terminology C101270 Kernicterus related to Isoimmunization Kernicterus related to Isoimmunization Kernicterus due to Isoimmunization Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. A type of kernicterus due to increased levels of unconjugated bilirubin in the serum as a consequence of the destruction of red blood cells initiated by the transmission of antibodies from a mother to the child via the placenta against any blood group antigen. C26920 Encephalopathy C99147 Neonatal Research Network Terminology C3149 Kidney Disease Kidney Disease A neoplastic or non-neoplastic condition affecting the kidney. Representative examples of non-neoplastic conditions include glomerulonephritis and nephrotic syndrome. Representative examples of neoplastic conditions include benign processes (e.g., renal lipoma and renal fibroma) and malignant processes (e.g., renal cell carcinoma and renal lymphoma). C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C34752 Klinefelter Syndrome Klinefelter Syndrome Klinefelter's Syndrome, XXY A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C98967 Klippel-Feil Syndrome Klippel-Feil Sequence A rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C84801 Klippel-Trenaunay-Weber Syndrome Klippel-Trenaunay-Weber Syndrome A rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C61254 Krabbe Disease Krabbe Disease Galactosylceramide Beta-Galactosidase Deficiency A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C25294 Laboratory Procedure Laboratory Procedure Any procedure that involves testing or manipulating a sample of blood, urine, or other body substance in a laboratory setting. C18020 Diagnostic Procedure C99147 Neonatal Research Network Terminology C98968 Lacrimal Mucocele Lacrimal Mucocele A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction. C26809 Lacrimal System Disorder C99147 Neonatal Research Network Terminology C26809 Lacrimal System Disorder Lacrimal System Disorder Disorder of Lacrimal System A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C98969 Lactic Acidosis Lactic Acidosis Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C98830 Ladd Band Ladd Band Band of Ladd|Ladd's Band The presence of peritoneal attachments (bands) that obstruct the duodenum. The attachments result from malrotation of the large intestine. This abnormality is manifested with severe vomiting soon after birth or after the first feeding of the infant. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C34197 Lanugo Lanugo Fine downy hair that covers the body of a human fetus beginning in the fifth month of gestation; it is usually shed by the ninth month of gestation. C32221 Body Part C99147 Neonatal Research Network Terminology C98827 Large Intestine Atresia Large Intestine Atresia Atresia of Large Intestine A malformation characterized by the absence of a normal opening in a part of the large intestine. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98622 Larnygeotracheoesophageal Cleft Larnygeotracheoesophageal Cleft Congenital Cleft Larynx|Tracheal Cleft A rare congenital abnormality in the laryngo-tracheal wall. It results from the incomplete development of the tracheoesophageal septum. Signs and symptoms include coughing, cyanosis, repeated pulmonary infections, and failure to gain weight. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C101279 Laryngeal Agenesis Laryngeal Agenesis Agenesis of Larynx A congenital deformity in which there is no laryngeal structure. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C98972 Laryngeal Atresia Laryngeal Atresia Congenital Atresia of Larynx A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. Laryngeal atresia is a congenital failure of the laryngeal opening to develop, resulting in partial or total obstruction at or just above or below the glottis. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C79608 Laryngeal Stenosis Laryngeal Stenosis Narrowing of the laryngeal airway. Laryngeal stenosis is a congenital or acquired narrowing of the upper airway that results in difficulty breathing. C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C98970 Laryngeal Web Laryngeal Web Tissue that develops between the vocal cords. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C98971 Laryngomalacia Laryngomalacia Increased collapsibility of the larynx. An abnormality characterized by softening of the laryngeal cartilage typically presenting with stridor.|Increased collapsibility of the larynx. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C92822 Late Deceleration Late Deceleration Late Fetal Heart Deceleration A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs after the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs after the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology C99126 Left Ventricular Outflow Tract Obstruction Left Ventricular Outflow Tract Obstruction Obstruction of the left ventricular outflow tract. It is caused by aortic valve, supravalvar, or subvalvar defects. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C84814 Leigh Disease Leigh Disease Leigh Disease|Leigh's Disease An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C3161 Leukemia Leukemia Leukemia, Disease A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. A cancer of the blood or bone marrow that is characterized by increased production of abnormal blood cells. C35370 Bone Marrow Neoplasm C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C3185 Leukemoid Reaction Leukemoid Reaction A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. C35524 Leukocytosis C99147 Neonatal Research Network Terminology C101319 Transient Leukemoid Reaction of the Newborn Leukemoid Reaction of the Newborn Transient Leukemoid Reaction of Newborn Increased white blood cell count and increased neutrophil precursors resembling leukemia in a neonate or fetus. Often, this is a response to medications received, infection or Down syndrome. C3185 Leukemoid Reaction C99147 Neonatal Research Network Terminology C35524 Leukocytosis Leukocytosis A laboratory test result indicating an increased number of white blood cells in the peripheral blood. Abnormally high level of white blood cells in the blood. C36292 Laboratory Test Result C99147 Neonatal Research Network Terminology C98902 Levo-Transposition of the Great Arteries Levo-Transposition of the Great Vessels L-Transposition of the Great Vessels An acyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery. C84742 Transposition of Great Vessels C99147 Neonatal Research Network Terminology C97092 Lipid Metabolism Disorder Lipid Metabolism Disorder An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C3192 Lipoma Lipoma A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. C3262 Neoplasm C99147 Neonatal Research Network Terminology C103921 Lissencephaly Lissencephaly A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms. A brain malformation characterized by smooth folds and grooves in the brain. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C98974 Lithium Induced Birth Defect Lithium-Induced Birth Defects Congenital abnormalities, mainly cardiovascular malformations, which develop in a fetus when the mother uses lithium medication during pregnancy. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C34786 Long QT Syndrome Long QT Syndrome A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death. A syndrome characterized by a propensity to develop life-threatening arrhythmias usually in the context of a prolonged corrected QT interval. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C84537 Long-Chain Acyl-CoA Dehydrogenase Deficiency Long-Chain Acyl-CoA Dehydrogenase Deficiency LCAD|Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. C3492 Enzyme Deficiency C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C87128 Loose Stool Loose Stool Liquid Stool Frequent, loose, and watery stools are noted in most infants, even if they are fed formula, until they are six to eight weeks old; after that, the stools become firmer and less frequent. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C98975 Low Anorectal Malformation Low Anorectal Malformation Congenital malformations in the anorectal region that include the perineal fistula, anteriorly placed anus, and anorecto-vestibular fistula. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C84940 Oculocerebrorenal Syndrome Lowe Syndrome An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C101211 Lumbar Meningocele Lumbar Meningocele A congenital abnormality in the lumbar region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C99147 Neonatal Research Network Terminology C98976 Lumbar Myelocele Lumbar Myelocele Herniation of spinal cord tissue and meninges through a defect in the lumbar region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C98874 Myelocele C99147 Neonatal Research Network Terminology C101203 Lumbar Myelomeningocele Lumbar Myelomeningocele Lumbar Meningomyelocele A congenital abnormality in the lumbar region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Myelomeningocele|Spina Bifida Cystica C99147 Neonatal Research Network Terminology C3198 Lung Disorder Lung Disorder Disorder of Lung A non-neoplastic or neoplastic disorder affecting the lung. Representative examples of non-neoplastic disorders include chronic obstructive pulmonary disease and pneumonia. Representative examples of neoplastic disorders include benign processes (e.g., respiratory papilloma) and malignant processes (e.g., lung carcinoma and metastatic cancer to the lung). C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C116994 Lupus Anticoagulant Disorder Lupus Anticoagulant Disorder A hypercoaguable state that results from the presence of the immunoglobulin known as Lupus Anticoagulant. The antibody interacts with cell membrane phospholipids, causing increased aggregation and adhesion of platelets, which causes increased clot formation. Though the majority of patients who test positive for lupus anticoagulant do not have lupus, those individuals afflicted with lupus have a higher probability of developing the antibody. C2889 Autoimmune Disease C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C27153 Lupus Erythematosus Lupus Erythematosus An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. C2889 Autoimmune Disease C99147 Neonatal Research Network Terminology C8965 Lymphangioma Lymphangioma A benign neoplasm arising from the lymphatics. The tumor is composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. C3262 Neoplasm C99147 Neonatal Research Network Terminology C61250 Lysosomal Storage Disease Lysosomal Storage Disorder Disorder of Lysosomal Enzymes A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C35268 Macrocephaly Macrocephaly An abnormally large head. Causes include hydrocephalus, enlarged brain, and cranial hyperostosis. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C3214 Malabsorption Syndrome Malabsorption Syndrome A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. A syndrome usually characterized by diarrhea resulting from the inadequate absorption of macronutrients in the small intestine. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C27019 Male Reproductive System Disorder Male Reproductive System Disorder Disorder of Male Reproductive System A non-neoplastic or neoplastic disorder that affects the male genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, and undescended testis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma. C4875 Reproductive System Disorder C99147 Neonatal Research Network Terminology C9305 Malignant Neoplasm Malignant Neoplasm Malignant Neoplastic Disease A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. Uncontrolled growth of abnormal cells with potential for metastatic spread. C3262 Neoplasm C99147 Neonatal Research Network Terminology C61275 Mannosidosis Mannosidosis A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. C3101 Genetic Disorder C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C34806 Maple Syrup Urine Disease Maple Syrup Urine Disease An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C34807 Marfan Syndrome Marfan's Syndrome A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. C3101 Genetic Disorder C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C92261 Hemoglobin C Measurement Measurement of Hemoglobin C The determination of the amount of hemoglobin C present in a sample. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology C98978 Meckel-Gruber Syndrome Meckel-Gruber Syndrome A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C12264 Meckel Diverticulum Meckel's Diverticulum A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C78743 Meconium Meconium The newborn's first intestinal discharge. It is a dark-green, thick substance composed of mucus, intestinal secretions, hair, and intestinal mucosa cells. C13236 Body Fluid or Substance C99147 Neonatal Research Network Terminology C87093 Meconium Aspiration Syndrome Meconium Aspiration Syndrome A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. Aspiration of meconium around the time of delivery resulting in severe respiratory distress. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C102977 Meconium Peritonitis Meconium Peritonitis Inflammation of the peritoneum caused by an intrauterine intestinal perforation leading to presence of meconium within the fetal peritoneal cavity. This is frequently seen as intra-abdominal calcifications on imaging. Inflammation of the peritoneum caused by an intrauterine intestinal perforation leading to presence of meconium within the fetal peritoneal cavity. This is frequently seen as intra-abdominal calcifications on imaging. C26726 Infectious Disease C99147 Neonatal Research Network Terminology C98980 Meconium Plug Syndrome Meconium Plug Syndrome Meconium Plug A transient colonic dysfunction in the newborn characterized by the delayed passage of meconium and associated intestinal dilatation. A transient disorder of the newborn colon characterized by the delayed passage of meconium and intestinal dilatation. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency Medium-Chain Acyl-CoA Dehydrogenase Deficiency MCAD|Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C34751 Medullary Sponge Kidney Medullary Sponge Kidney A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C3222 Medulloblastoma Medulloblastoma A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity. A rapidly progressive cancer of the brain that originates in the cerebellum. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C98983 Melnick-Fraser Syndrome Melnick-Fraser Syndrome An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C26828 Meningitis Meningitis A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. Inflammation of the membranes surrounding the brain and spinal cord. C27582 Central Nervous System Infectious Disease C99147 Neonatal Research Network Terminology C75486 Menkes Disease Menkes Disease Menkes Kinky-Hair Syndrome An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair. C3101 Genetic Disorder C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C81263 Mental Development Index Mental Development Index A sequential arrangement of information pertaining to the evolution of an individual's cognitive development. C81314 Newborn Behavioral Examination C99147 Neonatal Research Network Terminology C81264 Mental Scale Mental Scale A range of values that characterizes an individual's mental development. C81314 Newborn Behavioral Examination C99147 Neonatal Research Network Terminology C97045 Metabolic Bone Disorder Metabolic Bone Disease A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease. C3235 Metabolic Disease C99147 Neonatal Research Network Terminology C3235 Metabolic Disorder Metabolic Disease A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. C9229 Systemic Disorder C99147 Neonatal Research Network Terminology C98985 Metabolic Myopathy Metabolic Myopathy A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. C34816 Congenital Metabolic Disorder C101216 Myopathy C99147 Neonatal Research Network Terminology C101043 Methemoglobin Reductase Deficiency Methemoglobin Reductase Deficiency Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C98674 Methylcrotonyl-CoA Carboxylase Deficiency Methylcrotonyl-CoA Carboxylase Deficiency An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98986 Methylmalonic Acidemia Methylmalonic Acidemia A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C85874 Microcephaly Microcephaly Microcephalus A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. It is the result of brain developmental delay. C96412 Brain Development Abnormality C99147 Neonatal Research Network Terminology C98987 Microcolon Microcolon A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C103918 Microcystic Renal Disease Microcystic Renal Disease A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C87094 Micrognathism Micrognathism Congenital Micrognathism A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C98988 Microgyria Microgyria A congenital abnormality characterized by the presence of abnormally small convolutions in the brain. It results in mental retardation. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C98989 Microphthalmos Microphthalmos A congenital abnormality characterized by the presence of an abnormally small eye globe. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C101328 Mitochondrial Myopathy Mitochondrial Myopathy Myopathy caused by mitochondrial abnormalities. C98985 Metabolic Myopathy C99147 Neonatal Research Network Terminology C98991 Mitochondrial Trifunctional Protein Deficiency Mitochondrial Trifunctional Protein Deficiency A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98992 Mitral Valve Atresia Mitral Valve Atresia Congenital Atresia of Mitral Valve A congenital heart defect characterized by the complete atresia of the mitral valve. A congenital defect where the valve (mitral) which connects the two chambers on the left side of the heart (atrium and ventricle) is closed off. The blood is unable to flow between the two heart chambers. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C50852 Mitral Valve Regurgitation Mitral Valve Regurgitation The backward flow of blood from the left ventricle into the left atrium, owing to insufficiency of the mitral valve; it may be acute or chronic, usually due to mitral valve prolapse, rheumatic heart disease or a complication of cardiac dilatation. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C50654 Mitral Valve Stenosis Mitral Valve Stenosis Narrowing of the left atrioventricular mitral orifice. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C98982 MMIH Syndrome MMIH Syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome|Megacystis, Microcolon, Intestinal Hypoperistalsis Syndrome A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C84893 Mobius Syndrome Mobius Syndrome Oromandibular-Limb Hypogenesis Spectrum A very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C98993 Monosomy 13q Syndrome Monosomy 13q Syndrome A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C81311 Moro Reflex Moro Reflex An involuntary, primal response in the neonate to loud noise or the feeling of falling. The response is characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and involuntarily flexing the fingers and toes. An involuntary response in the neonate to the feeling of falling or a loud noise characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and flexion of the fingers and toes, that disappears by 4-6 months of age. C81181 Infant Reflex C99147 Neonatal Research Network Terminology C5039 Motor Manifestations Motor Manifestations The presence of an alteration in the ability to move one's body or any body parts in accordance with one's intent. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C35576 Mucocutaneous Candidiasis Mucocutaneous Candidiasis A fungal infection of the skin, nails, oral and vaginal mucosal sites caused by species of the genus Candida. It manifests with white discoloration of the tongue and swelling, redness, and tenderness of the nails. C26726 Infectious Disease C3371 Skin Disorder C99147 Neonatal Research Network Terminology C61259 Mucopolysaccharidosis Mucopolysaccharidosis A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C101215 Mullerian Inhibiting Factor Deficiency Mullerian Inhibiting Factor Deficiency MIS Deficiency|Mullerian Inhibiting Substance Deficiency A deficiency of the Mullerian inhibiting substance, which is secreted by the Sertoli cells during embryogenesis. It can result in unilateral or bilateral cryptorchidism, testicular regression syndrome and sterility. C26786 Gonadal Disorder C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C81312 Muscle Tone Score Muscle Tone Score A component of the Apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion. A component of the Apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion. C118807 C99147 Neonatal Research Network Terminology C84910 Muscular Dystrophy Muscular Dystrophy A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C110937 Musculoskeletal Finding Musculoskeletal Finding Symptoms, physical examination results, and/or laboratory rest results related to the muscles and bones. C3367 Finding C99147 Neonatal Research Network Terminology C107377 Musculoskeletal System Disorder Musculoskeletal System Disorder Disorder of Musculoskeletal System A category of diseases that involve muscles and bones. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C60989 Myasthenia Gravis Myasthenia Gravis A chronic autoimmune neuromuscular disorder characterized by skeletal muscle weakness. It is caused by the blockage of the acetylcholine receptors at the neuromuscular junction. C2889 Autoimmune Disease C99147 Neonatal Research Network Terminology C98874 Myelocele Myelocele Spinal Meningocele Herniation of spinal cord tissue and meninges through a defect in a region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C101214 Spina Bifida C99147 Neonatal Research Network Terminology C101201 Myelomeningocele Myelomeningocele A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. Incomplete closure of the spinal column during central nervous system development with protrusion of a hernial cyst containing meninges, spinal cord, or both. C101214 Spina Bifida C99147 Neonatal Research Network Terminology C27996 Myocardial Infarction Myocardial Infarction Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. Necrosis of the myocardium, as a result of interruption of the blood supply to the area. C3079 Heart Disorder C25738 Infarct C99147 Neonatal Research Network Terminology C101216 Myopathy Myopathy A non-neoplastic disorder that affects the muscles. Representative examples include muscular dystrophy, metabolic myopathies, muscular atrophies, and dermatomyositis. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C84913 Myotonic Disorder Myotonic Disorder An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C84914 Myotonic Dystrophy Myotonic Dystrophy Congenital Myotonic Dystrophy An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. C84913 Myotonic Disorder C99147 Neonatal Research Network Terminology C98994 NADH Dehydrogenase Deficiency NADH Dehydrogenase Deficiency NADH Dehydrogenase (Ubiquinone) Deficiency|NADH-CoQ Reductase (Complex I) Deficiency A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C84915 Necrotizing Enterocolitis Necrotizing Enterocolitis A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. A disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis.|A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Pneumatosis intestinalis is commonly seen on imaging. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C87101 Neonatal Abstinence Syndrome Neonatal Abstinence Syndrome NAS A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. C101321 Neonatal Drug Withdrawal C99147 Neonatal Research Network Terminology C89515 Neonatal Abstinence Syndrome Assessment Neonatal Abstinence Syndrome Assessment The measurement of the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse; the score can be used to determine subsequent treatment of the infant. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C99253 Neonatal Acrocyanosis Neonatal Acrocyanosis Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn. C26737 Cyanosis C99147 Neonatal Research Network Terminology C99251 Neonatal Adrenoleukodystrophy Neonatal Adrenoleukodystrophy A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma. C34816 Congenital Metabolic Disorder C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C101200 Neonatal Alloimmune Thrombocytopenia Neonatal Alloimmune Thrombocytopenia Neonatal Thrombocytopenia due to Platelet Alloimmunization Thrombocytopenia that occurs in neonates as a consequence of transplacental passage of maternal alloantibodies directed against fetal platelet antigens. Thrombocytopenia that occurs in neonates as a consequence of transplacental passage of maternal alloantibodies directed against fetal platelet antigens. C98996 Neonatal Disorder C3408 Thrombocytopenia C99147 Neonatal Research Network Terminology C101028 Neonatal Aspiration of Amniotic Fluid Neonatal Aspiration of Amniotic Fluid Inhalation of fluid from the amniotic sac into the lungs by the neonate. Aspiration of amniotic fluid around the time of delivery resulting in severe respiratory distress. C98996 Neonatal Disorder C83507 Aspiration|Respiratory Tract Aspiration C99147 Neonatal Research Network Terminology C99248 Neonatal Diabetes Mellitus Neonatal Diabetes Mellitus Hyperglycemia in the newborn due to a defect in the secretion or function of insulin. Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin. C3009 Endocrine System Disorder C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C98996 Neonatal Disorder Neonatal Disorder A non-neoplastic or neoplastic disorder which occurs during the neonatal period. An abnormal condition that occurs during the 28 days following birth. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C101321 Neonatal Drug Withdrawal Neonatal Drug Withdrawal DWN|Drug Withdrawal Syndrome in Newborn A constellation of neurobehavioral features observed following cessation or reduction of antenatal or postnatal drug exposure. A constellation of neurobehavioral features observed following cessation or reduction of antenatal or postnatal drug exposure. C98996 Neonatal Disorder C103170 Postnatal Drug Withdrawal C99147 Neonatal Research Network Terminology C84446 Neonatal Hepatitis Neonatal Hepatitis Hepatitis developing during the neonatal period. A broad category of conditions causing inflammation of the liver, usually presenting during the first month of life. C2990 Gastrointestinal Disorder C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C99235 Neonatal Hyperbilirubinemia Neonatal Hyperbilirubinemia Increased levels of bilirubin in the blood during the neonatal period. In the majority of cases it is seen in the first week of life and usually there is no underlying disease, however, it may also occur in hemolytic diseases, infections, metabolic disorders, and liver abnormalities. Increased levels of bilirubin in the blood during the first 28 days of life, which may be due to a pathologic or non-pathologic cause. C27088 Hyperbilirubinemia C99147 Neonatal Research Network Terminology C99237 Neonatal Hypoglycemia Neonatal Hypoglycemia Blood glucose concentration below the lower limit of established reference ranges in a newborn. Blood glucose concentration below the lower limit of established reference ranges in a newborn. C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C99231 Neonatal Infectious Disorder Neonatal Infectious Disorder An infectious disorder that occurs during the neonatal period. Representative examples include streptococcal infection, E.coli infection, and bacterial meningitis. A disorder in a newborn infant up to 28 days old resulting from the presence and activity of a bacterial, fungal, viral, or parasitic agent. It can transmitted antenatally, perinatally or postnatally. C26726 Infectious Disease C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C101035 Neonatal Injury Related to Birth Neonatal Injury Related to Birth An injury sustained to a neonate during the birthing process. Injury to a newborn incurred during labor and delivery. C3671 Injury C99147 Neonatal Research Network Terminology C99246 Neonatal Jaundice Neonatal Jaundice Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. Yellow coloring of skin, mucous membranes and eyes due to hyperbilirubinemia that appears during the first 28 days of life. C3143 Jaundice C99147 Neonatal Research Network Terminology C99236 Neonatal Lupus Erythematosus Neonatal Lupus Erythematosus A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C99255 Neonatal Opiate Withdrawal Syndrome Neonatal Opiate Withdrawal Syndrome A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids. A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids. C101321 Neonatal Drug Withdrawal C99147 Neonatal Research Network Terminology C27560 Neonatal Respiratory Distress Syndrome Neonatal Respiratory Distress Syndrome Respiratory Distress Syndrome in the Newborn A condition of the newborn marked by dyspnea with cyanosis, most frequently occurring in premature infants, children of diabetic mothers and infants delivered by cesarean section, and sometimes with no predisposing cause. C97173 Congenital Respiratory System Disorder C99232 Neonatal Respiratory System Disorder C99147 Neonatal Research Network Terminology C99232 Neonatal Respiratory System Disorder Neonatal Respiratory System Disorder A respiratory system disorder that occurs during the neonatal period. A representative example is the respiratory distress syndrome. C98996 Neonatal Disorder C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C99233 Neonatal Rickets Neonatal Rickets Osteopenia of Prematurity Rickets that usually affects premature infants. Factors that contribute to the development of neonatal rickets include calcium, phosphorus, or calciferol deficiency. It manifests with spontaneous fractures, respiratory distress, and growth developmental delays. A condition affecting premature infants characterized by decreased bone mineral content relative to the expected level of mineralization for an infant of comparable postmenstrual age. C98996 Neonatal Disorder C26878 Rickets C99147 Neonatal Research Network Terminology C98995 Neonatal Thrombocytopenia Neonatal Thrombocytopenia A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn. A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn. C98996 Neonatal Disorder C3408 Thrombocytopenia C99147 Neonatal Research Network Terminology C3262 Neoplasm Neoplasm Neoplastic Disease A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C40407 Nephroblastoma Nephroblastoma An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C34845 Nephrotic Syndrome Nephrotic Syndrome A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C26835 Nervous System Disorder Nervous System Disorder Disorder of Nervous System A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C3268 Nervous System Neoplasm Nervous System Neoplasm Neoplasm of Nervous System A benign or malignant, primary or metastatic neoplasm involving the central or peripheral nervous system. C3262 Neoplasm C99147 Neonatal Research Network Terminology C4375 Nesidioblastosis Nesidioblastosis A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C84923 Neural Tube Defect Neural Tube Defect A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C3270 Neuroblastoma Neuroblastoma A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation. A malignant neoplasm comprised of neuroblasts that commonly arises in or near the adrenal glands. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C3809 Neuroendocrine Neoplasm Neuroendocrine Tumor A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma. C3262 Neoplasm C99147 Neonatal Research Network Terminology C6727 Neurofibromatosis Neurofibromatosis Neurofibromatosis Syndrome An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas. C84348 Phakomatosis C99147 Neonatal Research Network Terminology C81313 Neurologic Examination Neurologic Examination Neurological Examination The assessment of the functionality of the brain, spinal column, and nerves. C25214 Evaluation Procedure C99147 Neonatal Research Network Terminology C89339 Neurological Screening Neurological Screening A specific type of neurologic examination for early detection of disease(s) and/or disorder(s). C81313 Neurologic Examination C99147 Neonatal Research Network Terminology C89516 Neuromuscular Maturity Assessment Neuromuscular Maturity Assessment A neuromuscular examination of a newborn's developmental characteristics. A neuromuscular examination of a newborn's developmental characteristics to confirm or assign gestational age. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C98990 Neuronal Migration Disorder Neuronal Migration Disorder Migration Defects A diverse group of congenital brain developmental disorders characterized by defects in neuronal migration in the brain during early fetal development. The neuronal migration defects result in brain abnormalities that are usually manifested with mental retardation and epilepsy. A developmental brain abnormality characterized by abnormal migration of neurons during cortical development. C96412 Brain Development Abnormality C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C4731 Neuropathy Neuropathy A disorder affecting the cranial nerves or the peripheral nervous system. It is manifested with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C81314 Newborn Behavioral Examination Newborn Behavioral Examination The assessment of behavior in neonates. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C87103 Newborn Heart Rate Newborn Heart Rate The number of heartbeats of the newborn per minute; the normal range is 100 - 180 heartbeats per minute. C49677 Heart Rate C99147 Neonatal Research Network Terminology C81270 Newborn Motor Scale Newborn Motor Scale A range of values used to quantify newborn motor development. C118807 C99147 Neonatal Research Network Terminology C87104 Newborn Respiratory Rate Newborn Respiratory Rate The number of inhalations and exhalations of the newborn per minute; the normal range is 30 - 60 breaths per minute. C49678 Respiratory Rate C99147 Neonatal Research Network Terminology C61269 Niemann-Pick Disease Niemann-Pick Disease Sphingomyelin/Cholesterol Lipidosis An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia. C3101 Genetic Disorder C97092 Lipid Metabolism Disorder C99147 Neonatal Research Network Terminology C101034 Intentional Trauma Nonaccidental Trauma An injury that is not the result of an accident or natural causes. C3671 Injury C99147 Neonatal Research Network Terminology C34854 Noonan Syndrome Noonan Syndrome Noonan's Syndrome A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C99136 Normal Pupillary Response Normal Pupillary Response Pupil Reactions Normal A finding indicating the quick and brisk constriction of the pupils in response to light. C36280 C99147 Neonatal Research Network Terminology C26836 Nutritional Disorder Nutritional Disorder Any condition related to a disturbance between proper intake and utilization of nourishment. C9229 Systemic Disorder C99147 Neonatal Research Network Terminology C34602 Ocular Injury Ocular Injury Injury of Eye Region Damage to the eye. C3671 Injury C99147 Neonatal Research Network Terminology C99142 OEIS Complex OEIS Syndrome A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities. C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology C98997 Omphalocele Omphalocele Congenital Omphalocele A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C98999 Optic Nerve Hypoplasia Optic Nerve Hypoplasia Hypoplasia of the Optic Nerve A congenital abnormality characterized by the underdevelopment of the optic nerve. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C99000 Orbital Cellulitis Orbital Cellulitis Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. An infection of the orbital tissue, posterior to the orbital septum. C26715 Cellulitis C99147 Neonatal Research Network Terminology C101334 Organic Acid Metabolism Disorder Organic Acid Metabolism Disorder Disorder of Organic Acid Metabolism An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C84957 Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carbamoyltransferase Deficiency An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma. C84785 Urea Cycle Metabolism Disorder C99147 Neonatal Research Network Terminology C84978 Osteochondrodysplasia Osteochondrodysplasia Congenital Skeletal Dysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C26837 Osteogenesis Imperfecta Osteogenesis Imperfecta A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones. C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C99003 Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type I The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal. C26837 Osteogenesis Imperfecta C99147 Neonatal Research Network Terminology C99001 Osteogenesis Imperfecta Type II Osteogenesis Imperfecta Type II A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities. C26837 Osteogenesis Imperfecta C99147 Neonatal Research Network Terminology C99002 Osteogenesis Imperfecta Type III Osteogenesis Imperfecta Type III A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face. C26837 Osteogenesis Imperfecta C99147 Neonatal Research Network Terminology C98576 Osteogenesis Imperfecta Type IV Osteogenesis Imperfecta Type IV A type of osteogenesis imperfecta that is characterized by fractures and hearing loss. It is more severe than type I and less severe than types II and III. C26837 Osteogenesis Imperfecta C99147 Neonatal Research Network Terminology C36293 Ovalocytosis Ovalocytosis A peripheral blood finding in which a large number of erythrocytes are shaped in a slightly oval-shaped form. C36289 Hematopoietic System Finding C99147 Neonatal Research Network Terminology C3300 Ovarian Cyst Ovarian Cyst A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods. C2978 Cyst C36284 C99147 Neonatal Research Network Terminology C99084 Ovarian Torsion Ovarian Torsion Twisting of the ovary resulting in the cutoff of the blood supply to the ovary. It may develop in an enlarged or normal ovary and in the vast majority of cases is unilateral. Signs and symptoms include acute lower abdominal pain, nausea, vomiting, and fever. C27020 Female Reproductive System Disorder C99147 Neonatal Research Network Terminology C60832 Oxygen Saturation Measurement Oxygen Saturation Measurement The determination of oxygen-hemoglobin saturation of blood either by withdrawing a sample and passing it through a classical photoelectric oximeter or by electrodes attached to some translucent part of the body like finger, earlobe, or skin fold. It includes non-invasive oxygen monitoring by pulse oximetry. C18020 Diagnostic Procedure C99147 Neonatal Research Network Terminology C75458 Pallister-Killian Syndrome Pallister-Killian Syndrome A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C50685 Pallor Pallor An unusual or extreme paleness, state of decreased skin or mucosal coloration. A condition characterized by an abnormal loss of color to the skin or mucous membranes due to reduced delivery of saturated hemoglobin.|An unusual or extreme paleness; state of decreased skin or mucosal color. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C110940 Panhypopituitarism Panhypopituitarism Insufficient production of all the anterior pituitary hormones. Insufficient production of the anterior pituitary hormones. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C3310 Paralysis Paralysis Paralytic Syndrome Partial or complete loss of function of one or more muscles. It is usually caused by damage to the nervous system. C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C98619 Parenteral Nutrition - Associated Cholestasis Parenteral Nutrition - Associated Cholestasis TPN Acquired Cholestasis Cholestasis that results from prolonged total parenteral nutrition. It is caused by diminished bile flow from the liver into the duodenum. It may result in cirrhosis and liver failure. Preterm infants are most susceptible to liver damage. Diminished bile flow from the liver into the duodenum as a result of prolonged parenteral nutrition or total parenteral nutrition. C83006 Cholestasis C99147 Neonatal Research Network Terminology C99004 Partial Anomalous Pulmonary Venous Return Partial Anomalous Pulmonary Venous Return Partial Anomalous Pulmonary Venous Connection A congenital heart disorder in which one or two pulmonary veins are not connected to the left atrium and drain into the right atrium instead. It may lead to arrhythmias and pulmonary hypertension. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C84492 Patent Ductus Arteriosus Patent Ductus Arteriosus A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C99005 Patent Urachus Patent Urachus A congenital abnormality that results from the failure of the lumen of urachus to be obliterated. It presents with leakage of urine from the bladder through the umbilicus. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C107376 Pediatric Non-congenital Ventricular Tachycardia Pediatric Non-congenital Ventricular Tachycardia A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin that was not present at birth in an individual under age 21. The QRS complexes are wide and have an abnormal morphology. C26924 Ventricular Arrhythmia C99147 Neonatal Research Network Terminology C99006 Pelvic Kidney Pelvic Kidney Congenital Pelvic Kidney A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C99007 Pelviureteric Junction Obstruction Pelviureteric Junction Obstruction Obstruction of Pelviureteric Junction|Ureteropelvic Junction Obstruction A usually congenital abnormality characterized by the partial obstruction of the junction between the renal pelvis and ureter. It may lead to hydronephrosis. C79805 Urinary Tract Obstruction C99147 Neonatal Research Network Terminology C99008 Pena-Shokeir Syndrome Pena-Shokeir Syndrome Pena-Shokeir Phenotype An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C99009 Penile Agenesis Penile Agenesis Aphallus|Congenital Absence of Penis An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C99010 Penoscrotal Transposition Penoscrotal Transposition Congenital Penoscrotal Transposition A rare congenital abnormality characterized by the partial or complete transposition of the penis and scrotum. In cases of complete penoscrotal transposition, the scrotum is positioned anteriorly and above the penis. It may be associated with other congenital abnormalities. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C99011 Pentalogy of Cantrell Pentalogy of Cantrell A rare syndrome characterized by the presence of omphalocele, anterior diaphragmatic hernia, sternal cleft, ectopia cordis, and ventricular septal defect or left ventricle diverticulum. C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology C101327 Pericardial Anomaly Pericardial Anomaly Any abnormality involving the pericardium. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C3319 Pericardial Effusion Pericardial Effusion Fluid collection within the pericardial sac, usually due to inflammation. Fluid collection within the pericardial sac. C3079 Heart Disorder C101327 Pericardial Anomaly C99147 Neonatal Research Network Terminology C101320 Perinatal Blood Aspiration Syndrome Perinatal Blood Aspiration Syndrome Perinatal Aspiration of Blood Respiratory distress in the newborn due to inhalation of blood; this is an unusual event and is sometimes linked to the non passage of meconium before delivery or mothers with antepartum hemorrhage. C35095 Perinatal Disorder C83507 Aspiration|Respiratory Tract Aspiration C99147 Neonatal Research Network Terminology C101271 Perinatal Central Nervous System Depression Perinatal Central Nervous System Depression Difficult Transition to Extrauterine Life Generalized depression of the central nervous system of an infant during the perinatal period. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C103191 Perinatal Cyanotic Attack Perinatal Cyanotic Attack Episodes of cyanosis during the perinatal period. C26737 Cyanosis C35095 Perinatal Disorder C99147 Neonatal Research Network Terminology C35095 Perinatal Disorder Perinatal Disorder A non-neoplastic or neoplastic disorder occurring during the period from about five months before birth to one month after birth. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C99258 Perinatal Drug Withdrawal Perinatal Drug Withdrawal Withdrawal signs and symptoms that present during the perinatal period and are caused by drug use by the pregnant mother. C35095 Perinatal Disorder C35046 Drug Withdrawal C99147 Neonatal Research Network Terminology C99261 Perinatal Intracranial Hemorrhage Perinatal Intracranial Hemorrhage Bleeding within the skull of a newborn infant occurring around the time of birth. Bleeding within the skull of a newborn infant occurring around the time of birth. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C35095 Perinatal Disorder C99147 Neonatal Research Network Terminology C101324 Perinatal Intraventricular Hemorrhage Perinatal Intraventricular Hemorrhage Bleeding within the cerebral ventricles occurring around the time of birth. Bleeding within the cerebral ventricles occurring around the time of birth. C50896 Intraventricular Hemorrhage C99261 Perinatal Intracranial Hemorrhage C99147 Neonatal Research Network Terminology C103228 Perinatal Jaundice Related to Inspissated Bile Syndrome Perinatal Jaundice Related to Inspissated Bile Syndrome Perinatal Jaundice due to Inspissated Bile Syndrome Yellow pigmentation of the skin, mucous membranes and eyes due to hyperbilirubinemia caused by inspissated bile plugs in the bile ducts during the perinatal period. Yellow pigmentation of the skin, mucous membranes and sclerae due to hyperbilirubinemia associated with intraluminal bile plugs, sludge or gallstones in the newborn infant. C3143 Jaundice C99147 Neonatal Research Network Terminology C103190 Perinatal Respiratory Distress Perinatal Respiratory Distress A pathological increase in the effort and frequency or breathing movements during the perinatal period. C35095 Perinatal Disorder C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C103187 Perinatal Subependymal Hemorrhage with Intraventricular and Intracerebral Extension Perinatal Subependymal Hemorrhage with Intraventricular and Intracerebral Extension A hemorrhage that involves the subependymal region, the lateral cerebral ventricles and the brain tissue occurring around the time of birth. A hemorrhage that involves the subependymal region, the lateral cerebral ventricles and the brain tissue occurring around the time of birth. C117201 Perinatal Subependymal Hemorrhage C99147 Neonatal Research Network Terminology C27580 Peripheral Nervous System Disorder Peripheral Nervous System Disorder Disorder of Peripheral Nervous System|Peripheral Nerve Disease A non-neoplastic or neoplastic disorder that affects the peripheral nervous system. C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C99013 Periventricular Leukomalacia Periventricular Leukomalacia Necrosis and softening of the white matter around the ventricles in the brain. It is usually seen in preterm infants and caused by lack of blood flow and oxygenation in the periventricular brain parenchyma. A form of cerebral white matter injury usually seen in preterm infants that is characterized by necrotic degeneration or gliosis of white matter adjacent to the cerebral ventricles, that may evolve into focal cysts.|Necrosis of brain tissue around the cerebral ventricles of neonates, most commonly seen in preterm infants. C98920 Encephalomalacia C99147 Neonatal Research Network Terminology C85005 Peroxisomal Disorder Peroxisomal Disorder Disorder of Peroxisomal Function|Peroxisomal Function Disorder A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C99014 Persistent Cloaca Persistent Cloaca A congenital abnormality in which the rectum, vagina, and urethra fuse and form a common channel. C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology C92842 Persistent Fetal Bradycardia Persistent Fetal Bradycardia A decrease in the fetal heart beat rate below 110 per minute or below the normal baseline value expected for the particular fetal age for a period of more than 10 minutes. C92782 Fetal Bradycardia C99147 Neonatal Research Network Terminology C85006 Persistent Fetal Circulation Persistent Fetal Circulation Persistent Pulmonary Hypertension of the Newborn A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C92843 Persistent Fetal Tachycardia Persistent Fetal Tachycardia A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. C92796 Fetal Tachycardia C99147 Neonatal Research Network Terminology C98880 Persistent Truncus Arteriosus Persistent Truncus Arteriosus Common Truncus Arteriosus A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C84348 Phakomatosis Phakomatosis Neurocutaneous Syndrome A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C81280 Phenylalanine Measurement Phenylalanine Measurement The measurement of the amount of phenylalanine in a biologic specimen. C81183 Amino Acid Measurement C99147 Neonatal Research Network Terminology C81281 Phenylalanine to Tyrosine Ratio Measurement Phenylalanine to Tyrosine Ratio Measurement Phenylalanine/Tyrosine Ratio Measurement The determination of the ratio of phenylalanine compared to tyrosine present in a sample. The measurement may be expressed as a ratio or percentage. C81183 Amino Acid Measurement C99147 Neonatal Research Network Terminology C34928 Phocomelia Phocomelia A congenital malformation in which the upper portion of a limb is either shortened or absent. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C99015 Phosphoenolpyruvate Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase (GTP) Deficiency A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C99017 Phrenic Nerve Palsy Phrenic Nerve Palsy Intermittent, incomplete or complete paralysis with or without tremors to any of the organs or body parts innervated by the phrenic nerve. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C110927 Physiologic Hyperbilirubinemia Physiological Hyperbilirubinemia Elevated bilirubin levels in the blood of a newborn infant. It is a normal response due to the limited ability to excrete bilirubin until the maturation of the neonatal liver is complete. Non-pathologic rise in bilirubin levels in the blood of a newborn infant, typically occurring within the first week of life, due to the limited ability to conjugate and excrete bilirubin. C99235 Neonatal Hyperbilirubinemia C99147 Neonatal Research Network Terminology C85010 Pierre Robin Syndrome Pierre Robin Syndrome Pierre Robin Sequence|Robin Sequence A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C110939 Plantar Grasp Reflex Plantar Grasp Reflex Finding A newborn reflex that is characterized by flexion of the toes when the sole of the foot is stroked. C81181 Infant Reflex C99147 Neonatal Research Network Terminology C99018 Plethoric Face Plethoric Face A finding that refers to a person with erythematous face. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C3331 Pleural Effusion Pleural Effusion Increased amounts of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma. An accumulation of fluid in the pleural cavity. C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C98981 Pneumomediastinum Pneumomediastinum Mediastinal Emphysema The presence of air in the mediastinum. It is caused by injury, most often esophageal or intestinal perforation. Mediastinal emphysema is a condition in which air is present in the mediastinum. It can result from physical trauma or other situations that lead to air escaping from the lungs, airways or bowel into the chest cavity. C3671 Injury C99147 Neonatal Research Network Terminology C99019 Pneumopericardium Pneumopericardium The presence of air in the pericardial cavity. Causes include chest injury in adults, and respiratory distress syndrome in infants. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C99012 Pneumoperitoneum Pneumoperitoneum Free air within the peritoneal cavity. Free air within the peritoneal cavity. C3368 Gastrointestinal System Signs and Symptoms C99147 Neonatal Research Network Terminology C38006 Pneumothorax Pneumothorax Abnormal presence of air in the pleural cavity. A collection of air or other gas between the visceral and parietal pleura. C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C85017 Poland Syndrome Poland Syndrome Poland Anomaly A rare developmental disorder characterized by underdevelopment or absence of the pectoralis muscle in one side of the chest, usually associated with ipsilateral cutaneous syndactyly, and ipsilateral breast and nipple hypoplasia. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C75464 Polycystic Kidney Disease Polycystic Kidney Disease Fibrocystic Renal Disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C3336 Polycythemia Vera Polycythemia Vera A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. Excessive proliferation of the myeloid lineage is observed as well. The major symptoms are related to hypertension or to vascular abnormalities caused by the increased red cell mass. The cause is unknown. With currently available treatment, the median survival exceeds 10 years. (WHO, 2001) C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C87110 Polydactyly Polydactyly A congenital abnormality characterized by more than 5 digits on a hand or foot. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C34610 Polyostotic Fibrous Dysplasia Polyostotic Fibrous Dysplasia Polyostotic Fibrous Dysplasia of Bone A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C89519 Popliteal Angle Measurement Popliteal Angle Measurement An examination whereby the patient is placed supine, the hip is flexed 90 degrees, and the knee is extended until firm resistance is met. The popliteal angle is the angle from the tibia to the femur. This measurement is used to assess hamstring contracture in children with cerebral palsy. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C99020 Porencephalic Cyst Porencephalic Cyst A congenital or acquired cystic cavity within the cerebral hemisphere. Cystic area of encephalomalacia that is the end result of a destructive process such as intraparenchymal hemorrhage, infection or trauma. C2978 Cyst C99147 Neonatal Research Network Terminology C3840 Port Wine Stain Port Wine Stain Port-Wine Stain of Skin A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99147 Neonatal Research Network Terminology C3119 Portal Hypertension Portal Hypertension Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly. Increased blood pressure in the portal venous system which manifests as ascites, splenomegaly and/or varices. C3368 Gastrointestinal System Signs and Symptoms C3117 Hypertension C99147 Neonatal Research Network Terminology C99021 Posterior Urethral Valve Posterior Urethral Valve Congenital Posterior Urethral Valves A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C103170 Postnatal Drug Withdrawal Postnatal Drug Withdrawal Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother. C89328 Pediatric Disorder C35046 Drug Withdrawal C99147 Neonatal Research Network Terminology C40435 Potter Syndrome Potter Syndrome Oligohydramnios Sequence|Potter's Sequence A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C75463 Prader-Willi Syndrome Prader-Willi Syndrome A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C34941 Pregnancy Complication Pregnancy Complication Complication Related to Pregnancy The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. C2959 Complication C99147 Neonatal Research Network Terminology C35169 Pregnancy Disorder Pregnancy Disorder Disorder of Pregnancy A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. C27020 Female Reproductive System Disorder C99147 Neonatal Research Network Terminology C99022 Prekallikrein Deficiency Prekallikrein Deficiency A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. C27215 Coagulation Factor Deficiency C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C99024 Premature Closure of the Ductus Arteriosus Premature Closure of the Ductus Arteriosus Closure of the ductus arteriosus prior to birth. Closure of the ductus arteriosus prior to birth. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C98864 Primary Carnitine Deficiency Primary Carnitine Deficiency Carnitine Deficiency|Renal Carnitine Transport Defect An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C34803 Primary Malignant Liver Neoplasm Primary Malignant Liver Neoplasm Primary Malignant Neoplasm of Liver An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. C84509 Primary Malignant Neoplasm C99147 Neonatal Research Network Terminology C84509 Primary Malignant Neoplasm Primary Malignant Neoplasm A malignant tumor at the original site of growth. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C92863 Prolonged Acceleration Prolonged Acceleration Prolonged Fetal Heart Rate Acceleration A fetal heart rate acceleration that lasts 2 to less than 10 minutes. A fetal heart rate acceleration that lasts 2 to 10 minutes.|A fetal heart rate acceleration that lasts 2 to less than 10 minutes. C92788 Fetal Heart Acceleration|Fetal Heart Rate Acceleration C99147 Neonatal Research Network Terminology C92864 Prolonged Deceleration Prolonged Deceleration Finding of Prolonged Deceleration A decrease in the fetal heart rate below baseline lasting 2 to less than 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute. A decrease in the fetal heart rate below baseline lasting 2 to 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute.|A decrease in the fetal heart rate below baseline lasting 2 to less than 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology C85030 Propionic Acidemia Propionic Acidemia A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy. C3101 Genetic Disorder C101334 Organic Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C99025 Protein C Deficiency Disease Protein C Deficiency Disease A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. C103172 Congenital Bleeding Disorder C84479 Hypercoaguability|Thrombophilia C99147 Neonatal Research Network Terminology C99026 Protein S Deficiency Disease Protein S Deficiency Disease A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. C103172 Congenital Bleeding Disorder C84479 Hypercoaguability|Thrombophilia C99147 Neonatal Research Network Terminology C85033 Prune Belly Syndrome Prune Belly Syndrome A rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C50711 Pseudoaneurysm Pseudoaneurysm The creation of hematoma outside the arterial wall following bleeding due to puncture of the arterial wall. Pseudoaneurysms can also occur in the heart chambers following myocardial infarction and bleeding. C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C99027 Pseudohypoparathyroidism Pseudohypoparathyroidism A condition characterized by the insensitivity of the tissues to respond to the activity of the parathyroid hormone. It results in increased levels of parathyroid hormone in the serum, hypocalcemia, and hyperphosphatemia. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C87130 Pterygium Colli Pterygium Colli Neck Webbing A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome. C97174 Congenital Skin Disorder C99147 Neonatal Research Network Terminology C99028 Pulmonary Agenesis Pulmonary Agenesis Congenital Absence of Lung An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C99029 Pulmonary Arteriovenous Fistula Pulmonary Arteriovenous Fistula Arteriovenous Fistula of Pulmonary Vessels|Pulmonary AV Fistula|Pulmonary Arteriovenous Malformation A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99147 Neonatal Research Network Terminology C50713 Pulmonary Embolism Pulmonary Embolism The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. The obstruction of blood flow by an embolus within the pulmonary circulation. C26759 Embolism C99147 Neonatal Research Network Terminology C78578 Pulmonary Hemorrhage Pulmonary Hemorrhage Bleeding from the lung parenchyma. C26791 Hemorrhage C99147 Neonatal Research Network Terminology C3120 Pulmonary Hypertension Pulmonary Hypertension Increased pressure within the pulmonary circulation due to lung or heart disorder. Elevated pulmonary vascular pressure. C3117 Hypertension C99147 Neonatal Research Network Terminology C50715 Pulmonary Stenosis Pulmonary Stenosis Pulmonic Valve Stenosis Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C103226 Pulmonary Trunk Hypoplasia Pulmonary Trunk Hypoplasia Underdeveloped pulmonary arteries. C98882 Congenital Lung Malformation C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C99031 Pulmonary Valve Atresia Pulmonary Valve Atresia Congenital Atresia of the Pulmonary Valve|Pulmonary Atresia A congenital heart defect characterized by complete atresia of the pulmonary valve. It is manifested during infancy with cyanosis, dyspnea, and tachypnea. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C99032 Pulmonary Valve Atresia with Intact Ventricular Septum Pulmonary Valve Atresia with Intact Ventricular Septum Pulmonary Atresia with Intact Ventricular Septum Pulmonary valve atresia not associated with a ventricular septal defect. C99031 Pulmonary Valve Atresia C99147 Neonatal Research Network Terminology C99033 Pulmonary Valve Atresia with Ventricular Septal Defect Pulmonary Valve Atresia with Ventricular Septal Defect Pulmonary Atresia with Ventricular Septal Defect Pulmonary valve atresia associated with the presence of a large ventricular septal defect. It may be a severe form of tetralogy of Fallot. C99031 Pulmonary Valve Atresia C99147 Neonatal Research Network Terminology C99036 Pulmonary Vein Stenosis Pulmonary Vein Stenosis Obstruction of the pulmonary vein in one or multiple sites. The obstruction is the result of wall thickening and narrowing of the lumen of the vein. C98643 Venous Stenosis C99147 Neonatal Research Network Terminology C38085 Pulse Oximetry Pulse Oximetry A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin. C60832 Oxygen Saturation Measurement C99147 Neonatal Research Network Terminology C49676 Pulse Rate Pulse Rate The rate of the pulse as observed in an artery, expressed as beats per minute. It can be measured at several anatomical sites, including the wrist, neck, temple, groin, behind the knees, or on top of the foot. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C87107 Pupils Equal Round and Reactive to Light Pupil Equal Round and Reacting to Light While performing an assessment of the eyes, the examiner notes whether the pupils are equal, round, and reactive to light. If all findings are normal, the abbreviation PERRL is noted in the examiner's account of the physical examination. C36280 C99147 Neonatal Research Network Terminology C34966 Pyloric Stenosis Pyloric Stenosis Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C85040 Pyruvate Carboxylase Deficiency Pyruvate Carboxylase Deficiency A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C103968 Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Deficiency A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C99037 Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency Hemolytic Anemia due to Pyruvate Kinase Deficiency An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia. C97090 Amino Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C99038 Radial Aplasia-Thrombocytopenia Syndrome Radial Aplasia-Thrombocytopenia Syndrome A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone. C3101 Genetic Disorder C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C99141 Radial Hypoplasia Radial Hypoplasia Congenital Hypoplasia of Radius A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity. C84978 Osteochondrodysplasia C99147 Neonatal Research Network Terminology C99039 Radius Fracture Radius Fracture Fracture of Radius Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C78589 Rectal Stenosis Rectal Stenosis Narrowing of the rectal lumen. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C99040 Recto-Vesico-Vaginal Fistula Rectal-Vesico-Vaginal Fistula An abnormal communication between the rectum, bladder, and vagina. C79847 Vaginal Fistula C99147 Neonatal Research Network Terminology C92866 Recurrent Deceleration Recurrent Deceleration Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. Applies to early, late or variable decelerations. Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. Applies to early, late or variable decelerations.|Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology C103171 Recurrent Laryngeal Nerve Injury Recurrent Laryngeal Nerve Injury Damage to the recurrent laryngeal nerve. C26733 Cranial Nerve Disorder C3671 Injury C99147 Neonatal Research Network Terminology C78592 Recurrent Laryngeal Nerve Paralysis Recurrent Laryngeal Nerve Paralysis Vagus Nerve Laryngeal Paralysis Paralysis of the recurrent laryngeal nerve. Causes include surgical and non-surgical traumas, neoplasms (e.g., lung carcinoma), and inflammatory neuritis. Paralysis of the recurrent laryngeal nerve. C26733 Cranial Nerve Disorder C103171 Recurrent Laryngeal Nerve Injury C99147 Neonatal Research Network Terminology C81283 Red Reflex Test Red Reflex Test Red Reflex Vision Test An optic examination in which an ophthalmoscope or retinoscope is placed approximately 30cm from the eye to visualize whether a reddish hue is reflected from the retina. An optic examination in which an ophthalmoscope or retinoscope is placed in front of the eye to determine whether a circular reddish hue is visible. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C78342 Reflex Reflex Reflex Finding|Reflex Observable An automatic instinctive unlearned reaction to a stimulus. C36280 C99147 Neonatal Research Network Terminology C81319 Reflex Irritability Score Reflex Irritability Score A component of the Apgar score, it is the numerical value assigned to the neonate's response to stimuli, such as a mild pinch. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry. A component of the Apgar score, it is the numerical value assigned to the neonate's response to tactile stimuli. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry. C118807 C99147 Neonatal Research Network Terminology C99041 Renal Agenesis Renal Agenesis A congenital abnormality characterized by the absence of one or both kidneys. C98885 Congenital Urinary System Abnormality C3149 Kidney Disease C99147 Neonatal Research Network Terminology C3847 Renal Cell Dysplasia Renal Cell Dysplasia Renal Dysplasia A finding of congenital malformations in the kidney characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C4376 Renal Failure Renal Failure Renal Failure Syndrome Acute or chronic condition, characterized by the inability of the kidneys to adequately filter the blood substances, resulting in uremia and electrolyte imbalances. Acute renal failure is usually associated with oliguria or anuria, hyperkalemia, and pulmonary edema. Chronic renal failure is irreversible and requires hemodialysis. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C28129 Renal Tubular Acidosis Renal Tubular Acidosis Failure of the renal tubules of the kidney to excrete urine of normal acidity resulting in metabolic acidosis. It may lead to hypercalcinuria, nephrolithiasis, and renal failure. Causes include autoimmune disorders (e.g., Sjogren syndrome, systemic lupus erythematosus, and rheumatoid arthritis), medications (e.g., non steroidal anti-inflammatory drugs, diuretics, and blood pressure medications), Fanconi syndrome, or it may be familiar. Hyperchloremic metabolic acidosis caused by failure of the kidney to excrete non-volatile acid or reabsorb filtered bicarbonate associated with a normal or near normal glomerular filtration rate. C27120 Electrolyte Disorder C3149 Kidney Disease C99147 Neonatal Research Network Terminology C99042 Renal Vein Thrombosis Renal Vein Thrombosis The formation of a blood clot (thrombus) in the renal vein. A blood clot in the renal vein. C99107 Venous Thrombosis C99147 Neonatal Research Network Terminology C4875 Reproductive System Disorder Reproductive System Disorder Disorder of Reproductive System A non-neoplastic or neoplastic disorder that affects the male or female genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C26872 Respiratory Failure Respiratory Failure The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. The significant impairment of gas exchange resulting in hypoxia and/or hypercarbia, to the extent that tissue oxygenation is severely compromised. C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C101332 Respiratory Failure Related to Central Nervous System Disorder Respiratory Failure Related to Central Nervous System Disorder Respiratory Failure due to CNS Disorder Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a central nervous system disorder. C26872 Respiratory Failure C99147 Neonatal Research Network Terminology C101331 Respiratory Failure Related to Neuromuscular Disorder Respiratory Failure Related to Neuromuscular Disorder Respiratory Failure due to Neuromuscular Disorder Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a neuromuscular disorder. C26872 Respiratory Failure C99147 Neonatal Research Network Terminology C49678 Respiratory Rate Respiratory Rate The rate of breathing (inhalation and exhalation) measured within in a unit time, usually expressed as breaths per minute. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C26871 Respiratory System Disorder Respiratory System Disorder Disorder of Respiratory System A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C45233 Respiratory System Finding Respiratory System Finding Respiratory Finding Symptoms, physical examination results, and/or laboratory test results related to the respiratory system. C3367 Finding C99147 Neonatal Research Network Terminology C83507 Respiratory Tract Aspiration Respiratory Tract Aspiration Accidental inhalation of a foreign material into the lungs. The entry of foreign material past the larynx, and into the lower respiratory tract. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C26875 Retinal Disorder Retinal Disorder An abnormal structure or function of the retina and its associated tissues. C99208 Eye Finding C99147 Neonatal Research Network Terminology C101217 Retinal Examination Retinal Examination An examination of the retina of the eye using an ophthalmoscope. C18020 Diagnostic Procedure C99147 Neonatal Research Network Terminology C7541 Retinoblastoma Retinoblastoma A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. A malignant tumor of the eye comprised of immature retinal cells. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C34982 Retinopathy of Prematurity Retinopathy of Prematurity A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. A vasoproliferative condition of very immature newborn infants that may be characterized by non-vascularized retina leading to neovascularization, scarring, retinal detachment, and eventually blindness. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C99044 Retinopathy of Prematurity in Zone 1 Retinopathy of Prematurity in Zone 1 Retinopathy of prematurity located in zone 1 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 1, a circle that is centered on the optic nerve and extends peripherally twice the distance from the center of the optic disc to the center of the macula. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C99045 Retinopathy of Prematurity in Zone 2 Retinopathy of Prematurity in Zone 2 Retinopathy of prematurity located in zone 2 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 2, a circle surrounding zone 1 and extending peripherally to the nasal ora serrata. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C99046 Retinopathy of Prematurity in Zone 3 Retinopathy of Prematurity in Zone 3 Retinopathy of prematurity located in zone 3 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 3, the residual temporal crescent of retina anterior to zone 2. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C99047 Retinopathy of Prematurity Stage 1 Demarcation Line Retinopathy of Prematurity Stage 1 - Demarcation Line An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of a faint demarcation line. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 1 is defined by a demarcation line, a thin but definite structure that separates the avascular retina anteriorly from the vascularized retina posteriorly. There is abnormal branching or arcading of vessels leading up to the demarcation line that is relatively flat, white, and lies within the plane of the retina.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 1: Demarcation Line is a thin but definite structure that separates the avascular retina anteriorly from the vascularized retina posteriorly. There is abnormal branching or arcading of vessels leading up to the demarcation line that is relatively flat, white, and lies within the plane of the retina. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C99048 Retinopathy of Prematurity Stage 2 Intraretinal Ridge Retinopathy of Prematurity Stage 2 - Intraretinal Ridge An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of an elevated ridge. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 2 is defined by an intraretinal ridge, the ridge arises from the demarcation line and has height and width, which extends above the plane of the retina. The ridge may change from white to pink and vessels may leave the plane of the retina posterior to the ridge to enter it.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 2: Intraretinal Ridge, the ridge arises from the demarcation line and has height and width, which extends above the plane of the retina. The ridge may change from white to pink and vessels may leave the plane of the retina posterior to the ridge to enter it. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C99049 Retinopathy of Prematurity Stage 3 Ridge with Extraretinal Fibroblastic Proliferation Retinopathy of Prematurity Stage 3 - Ridge with Extraretinal Fibrovascular Proliferation An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of extraretinal fibrovascular tissue. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 3 is defined by a ridge with extraretinal fibrovascular proliferation, the neovascularization extends from the ridge into the vitreous. This extraretinal proliferating tissue is continuous with the posterior aspect of the ridge, causing a ragged appearance as the proliferation becomes more extensive.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 3: Ridge with extraretinal fibrovascular proliferation, the neovascularization extends from the ridge into the vitreous. This extraretinal proliferating tissue is continuous with the posterior aspect of the ridge, causing a ragged appearance as the proliferation becomes more extensive. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C99050 Retinopathy of Prematurity Stage 4 Subtotal Retinal Detachment Retinopathy of Prematurity Stage 4 - Subtotal Retinal Detachment An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of subtotal retinal detachment. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 4 is defined by subtotal retinal detachment. The retinal detachments are generally concave and most are circumferentially oriented. Retinal detachments usually begin at the point of fibrovascular attachment to the vascularized retina and the extent of detachment depends on the amount of neovascularization present. Stage 4A is defined by retinal detachment which spares the macula. Stage 4B is defined by retinal detachment involving the macula.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 4: Subtotal Retinal Detachment the retinal detachments are generally concave and most are circumferentially oriented. Retinal detachments usually begin at the point of fibrovascular attachment to the vascularized retina and the extent of detachment depends on the amount of neovascularization present. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C99051 Retinopathy of Prematurity Stage 5 Total Retinal Detachment Retinopathy of Prematurity Stage 5 - Total Retinal Detachment An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of total retinal detachment. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 5 is defined by total retinal detachment. The retinal detachments are generally tractional and usually funnel shaped. The configuration of the funnel itself is used for subdivision of this stage depending if the anterior and posterior portions are open or narrowed.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 5: Total Retinal Detachment, the retinal detachments are generally tractional and usually funnel shaped. The configuration of the funnel itself is used for subdivision of this stage depending if the anterior and posterior portions are open or narrowed. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C101036 Retinopathy of Prematurity with Plus Disease Retinopathy of Prematurity with Plus Disease A stage of retinopathy of prematurity characterized by the presence of the following in at least two quadrants around the optic nerve: dilation and tortuosity of major retinal vasculature as a result of increased blood flow. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. Plus disease is characterized by at least two quadrants around the optic nerve showing evidence of dilation and tortuosity of the major retinal vessels resulting from increased blood flow or neovascularization of the iris or poor view of the retina due to vitreous haze. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C99052 Rh Titer Measurement Rh Titer Measurement Rhesus Antibody Titer Measurement An immunology test that detects the quantity of anti-Rhesus antibodies in the serum of a pregnant woman. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C3358 Rhabdomyoma Rhabdomyoma Rhabdomyomatous Neoplasm A benign neoplasm arising from striated muscle. It is characterized by the presence of rhabdomyoblasts. C3262 Neoplasm C99147 Neonatal Research Network Terminology C3359 Rhabdomyosarcoma Rhabdomyosarcoma A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes. C9305 Cancer|Malignant Neoplasm C9118 Sarcoma C99147 Neonatal Research Network Terminology C85047 Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata Syndrome|Rhizomelic Dwarfism An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation. C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C87116 Rhonchi Rhonchi An abnormal sound similar to snoring heard on auscultation of the bronchial airways, suggesting a partial obstruction due to thick secretions, a muscular spasm, or a neoplasm. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C34990 Rib Fracture Rib Fracture Fracture of Rib A traumatic or pathologic injury to the rib in which the continuity of the rib is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C26878 Rickets Rickets Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. Reduced bone density in children secondary to a deficiency or defective metabolism of vitamin D, calcium, or phosphorus. C26836 Nutritional Disorder C99147 Neonatal Research Network Terminology C103917 Right Aortic Arch Right Aortic Arch An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. A congenital anomaly in which the aorta is displaced to the right and passes behind the esophagus, thus forming a vascular ring that may cause compression of the trachea and esophagus. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C69284 R-R Interval R-R Interval R-R Wave Period The time measurement between the R wave of successive heartbeats as measured in milliseconds. C92790 Fetal Heart Rate Variability C99147 Neonatal Research Network Terminology C92873 Rubella Screening Rubella Screening A test during pregnancy to determine maternal exposure to the rubella virus that could lead to pregnancy complications or congenital rubella syndrome in the newborn. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C75466 Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C85068 Russell-Silver Syndrome Russell-Silver Syndrome A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C99054 Sacral Agenesis Sacral Agenesis Caudal Regression A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C87118 Sacral Dimple Sacral Dimple A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area. A blind-ending, epithelial-lined tract that is located 5-25 mm from the anal verge. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C101212 Sacral Meningocele Sacral Meningocele A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C99147 Neonatal Research Network Terminology C98900 Sacral Myelocele Sacral Myelocele Herniation of spinal cord tissue and meninges through a defect in the sacral region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C98874 Myelocele C99147 Neonatal Research Network Terminology C101207 Sacral Myelomeningocele Sacral Myelomeningocele Congenital Sacral Meningocele A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Myelomeningocele|Spina Bifida Cystica C99147 Neonatal Research Network Terminology C99055 Sacrococcygeal Teratoma Sacrococcygeal Teratoma A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. C3262 Neoplasm C99147 Neonatal Research Network Terminology C75034 Type III Acrocephalosyndactyly Saethre-Chotzen Syndrome Acrocephalosyndactyly Type III A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C9118 Sarcoma Sarcoma A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C99056 Schizencephaly Schizencephaly A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C85056 Scimitar Syndrome Scimitar Syndrome A rare congenital cardiopulmonary defect characterized by abnormal right-sided pulmonary venous drainage and right lung malformations. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C78603 Scoliosis Scoliosis A congenital or acquired spine deformity characterized by lateral curvature of the spine. C99064 Spinal Deformity C99147 Neonatal Research Network Terminology C2962 Seizure Seizure Sudden, involuntary skeletal muscular contractions of cerebral or brain stem origin. A paroxysmal surge of electrical activity in the brain that may result in physical or behavioral changes. C87124 Central Nervous System Signs and Symptoms C99147 Neonatal Research Network Terminology C3020 Seizure Disorder Seizure Disorder A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. A neurological disorder characterized by recurring seizures. C96413 Brain Disorder C99147 Neonatal Research Network Terminology C3364 Septicemia Sepsis Sepsis Syndrome The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention. A systemic inflammatory response to an infection.|Clinical syndrome defined by the presence of both infection and a systemic inflammatory response. C2890 Bacterial Disease C99147 Neonatal Research Network Terminology C85063 Septo-Optic Dysplasia Septo-Optic Dysplasia Septo-Optic Dysplasia Sequence A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism. C98999 Optic Nerve Hypoplasia C99147 Neonatal Research Network Terminology C99057 Severe Bronchopulmonary Dysplasia Severe Bronchopulmonary Dysplasia Bronchopulmonary dysplasia that results in severe respiratory complications. The infants with severe symptoms are usually premature, have low birth weight, and the oxygen and ventilation support requirements are increased. C90599 Bronchopulmonary Dysplasia C99147 Neonatal Research Network Terminology C103186 Sexual Differentiation Disorder Sexual Differentiation Disorder Disorder of Sexual Differentiation A congenital disorder characterized by abnormalities in the development of the sexual characteristics. C103185 Congenital Reproductive System Abnormality C89330 Developmental Disorder C99147 Neonatal Research Network Terminology C35016 Shock Shock A life-threatening condition that requires immediate medical intervention. It is characterized by reduced blood flow that may result in damage of multiple organs. Types of shock include cardiogenic, hemorrhagic, septic, anaphylactic, and traumatic shock. Profoundly reduced blood flow that results in impaired tissue perfusion and possible end organ damage. C2931 Cardiovascular Disorder C99147 Neonatal Research Network Terminology C99058 Shone Syndrome Shone Syndrome Shone's Syndrome (Greater than 3 Sites) A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99147 Neonatal Research Network Terminology C99059 Short Bowel Syndrome Short Bowel Syndrome Malabsorption that results from the removal of a large segment of the small intestine or, less frequently, from the presence of congenital small intestine. Signs and symptoms include diarrhea, steatorrhea, and weigh loss. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C101041 Short Segment Hirschsprung Disease Short Segment Hirschsprung's Disease The most common form of Hirschsprung Disease, this is characterized by a lack of nerve cells in the sigmoid colon and rectum. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary. C34700 Hirschsprung Disease C99147 Neonatal Research Network Terminology C92879 Short-Term Fetal Heart Rate Variability Short-Term Fetal Heart Rate Variability Short Term Variability A non-sustained irregular fetal heart rate in comparison to normal baseline values. C92790 Fetal Heart Rate Variability C99147 Neonatal Research Network Terminology C95539 Sickle Beta Thalassemia Sickle Beta Thalassemia Hb S-Beta Thalasemia|S-Beta Thalasemia|Sickle Cell-Beta-Thalassemia A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene. C35069 Thalassemia C99147 Neonatal Research Network Terminology C34383 Sickle Cell Disease Sickle Cell Disease Sickle Cell (SS only)|Sickling Disorder due to Hemoglobin S A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. C3092 Hemoglobinopathy C99147 Neonatal Research Network Terminology C34676 Sickle Cell-Hemoglobin C Disease Sickle Cell-Hemoglobin C Disease A hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin C disease. Patients present with the symptoms of sickle cell disease but the latter are less frequent and severe compared to sickle cell disease. C3092 Hemoglobinopathy C99147 Neonatal Research Network Terminology C87120 Single Palmar Crease Single Palmar Crease Single Transverse Palmar Crease A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C99060 Single Ventricle Defect Single Ventricle Defect Single Ventricle A diverse group of congenital cardiovascular abnormalities that share one characteristic, the presence of a single functional cardiac ventricle. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C87121 Situs Inversus Situs Inversus Situs Ambiguus|Situs Inversus Viscerum A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology C99061 Situs Inversus Thoracis Situs Inversus Thoracis A congenital condition in which there is complete right-to-left reversal of the position of the thoracic organs. C87121 Situs Inversus C99147 Neonatal Research Network Terminology C81321 Skin Color Score Skin Color Score A component of the Apgar score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = pale blue; 1 = pink body and pale blue extremities; 2 = pink body and extremities. A component of the Apgar score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = blue; 1 = pink body and blue extremities; 2 = pink body and extremities. C36281 Integumentary System Finding C99147 Neonatal Research Network Terminology C3371 Skin Disorder Skin Disorder Disorder of Skin Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C4905 Skin Hemangioma Skin Hemangioma Hemangioma of Skin A hemangioma arising from the skin. C3085 Hemangioma C99147 Neonatal Research Network Terminology C99062 Skin Injury Skin Injury Injury of Integument Damage to the skin. C3671 Injury C99147 Neonatal Research Network Terminology C12789 Skull Skull Cranial Cavity Structure The bones that form the head, made up of the bones of the braincase and face. C32221 Body Part C99147 Neonatal Research Network Terminology C50745 Skull Fracture Skull Fracture Fracture of Skull A traumatic or pathologic injury to the bones of the skull in which the continuity of the bones of the skull is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C3376 Sleep Disorder Sleep Disorder A change from the patient's baseline sleeping pattern, either an increase or a decrease in the number of hours slept. This can also refer to alterations in the stages of sleep. C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C85071 Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C103919 Solitary Multilocular Renal Cyst Solitary Multilocular Renal Cyst A single cyst in the kidney with several compartments. C2978 Cyst C3149 Kidney Disease C99147 Neonatal Research Network Terminology C102986 Somatotropin Deficiency Somatotropin Deficiency Abnormally low levels of circulating somatotropin. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C75019 Sotos Syndrome Sotos Syndrome Cerebral Gigantism Syndrome|Sotos' Syndrome A rare genetic syndrome caused by mutations in the NSD1 gene. It is characterized by excessive physical growth early in life, mild mental retardation, and delayed cognitive and social development. Children affected by this syndrome are tall with larger than normal heads. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C34781 Spastic Diplegia Spastic Diplegia A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. A type of spastic cerebral palsy characterized by increased muscle tone of the lower extremities bilaterally, particularly the legs, hips, and pelvis. C34460 Cerebral Palsy C99147 Neonatal Research Network Terminology C85074 Spherocytosis Spherocytosis A hereditary or acquired blood disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly. C36289 Hematopoietic System Finding C99147 Neonatal Research Network Terminology C117254 Sphingolipidosis Sphingolipidosis An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. C3235 Metabolic Disease C99147 Neonatal Research Network Terminology C101214 Spina Bifida Spina Bifida A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. C84923 Neural Tube Defect C99147 Neonatal Research Network Terminology C101044 Spina Bifida Occulta Spina Bifida Occulta The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic. C101214 Spina Bifida C99147 Neonatal Research Network Terminology C101272 Spinal Cord Infarct during Birth Spinal Cord Infarct during Birth Ischemic necrosis of the spinal cord due to spinal artery occlusion during the birthing process. Ischemic necrosis of the spinal cord due to spinal artery occlusion sustained during the birthing process. C101035 Birth Injury|Neonatal Injury Related to Birth C99147 Neonatal Research Network Terminology C99063 Spinal Cord Infarction Spinal Cord Infarction Infarction of Spinal Cord Ischemic necrosis of the spinal cord caused by occlusion of the arteries that supply blood to the spinal cord. Signs and symptoms include intermittent back pain, pain in the legs, paralysis, and incontinence. C2934 Central Nervous System Disorder C25738 Infarct C99147 Neonatal Research Network Terminology C50750 Spinal Cord Injury Spinal Cord Injury Traumatic damage of the spinal cord. C2934 Central Nervous System Disorder C3671 Injury C99147 Neonatal Research Network Terminology C99064 Spinal Deformity Spinal Deformity A congenital or acquired deformity of the spine. Representative examples include scoliosis, kyphosis, and sagittal imbalance. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C101278 Spinal Injury Related to Birth Spinal Injury Related to Birth Spinal Injury Related to Birth Trauma An injury to the spine sustained during the birthing process. An injury to the spinal cord occurring during labor and/or delivery. Injury may include compression, partial or complete disruption of the cord. C101035 Birth Injury|Neonatal Injury Related to Birth C50750 Spinal Cord Injury C99147 Neonatal Research Network Terminology C101209 Spinal Meningocele Spinal Meningocele Meningocele A congenital abnormality in which the meninges protrude through a defect in the spinal column. C101214 Spina Bifida C99147 Neonatal Research Network Terminology C85075 Spinal Muscular Atrophy Spinal Muscular Atrophy An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C99145 Spontaneous Perforation Spontaneous Perforation A hole through the wall of an organ that occurs without external influence. C3671 Injury C99147 Neonatal Research Network Terminology C81322 Step Reflex Step Reflex Stepping Reflex An involuntary, primal response in the neonate to take brisk steps when the feet are placed on a surface whilst in a supported standing position. C81181 Infant Reflex C99147 Neonatal Research Network Terminology C101042 Steroid 21-Monooxygenase Deficiency Steroid 21-Monooxygenase Deficiency Less than necessary amount of the enzyme steroid 21-monooxygenase; which is necessary to synthesize cortisol. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C74984 Stickler Syndrome Stickler Syndrome A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C35040 Strabismus Strabismus Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. C26767 C99147 Neonatal Research Network Terminology C3391 Sturge-Weber Syndrome Sturge-Weber Syndrome A congenital disorder characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomenigeal angiomas, glaucoma, progressive hemiparesis and cognitive deficits. C3101 Genetic Disorder C84348 Phakomatosis C99147 Neonatal Research Network Terminology C50757 Subarachnoid Hemorrhage Subarachnoid Hemorrhage Intracranial hemorrhage into the subarachnoid space. C50438 Intracranial Hemorrhage C99147 Neonatal Research Network Terminology C50759 Subdural Hemorrhage Subdural Hemorrhage Bleeding between the dura mater and the brain, usually secondary to a tear of the bridging vein. C50438 Intracranial Hemorrhage C99147 Neonatal Research Network Terminology C50761 Subgaleal Hemorrhage Subgaleal Hemorrhage Bleeding between the scalp and the periosteum. C50438 Intracranial Hemorrhage C99147 Neonatal Research Network Terminology C81323 Sucking Reflex Sucking Reflex An involuntary, primal response in the neonate when a nipple is placed on an infant's lips. An involuntary response in the neonate when a nipple is placed on an infant's lips to rhythmically suck, that disappears by 2-5 months of age. C81181 Infant Reflex C99147 Neonatal Research Network Terminology C85176 Supravalvular Aortic Stenosis Supravalvular Aortic Stenosis A rare, congenital or acquired aortic stenosis characterized by localized or diffuse narrowing of the ascending aorta. C3079 Heart Disorder C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C99066 Supravalvular Pulmonary Artery Stenosis Supravalvular Pulmonary Artery Stenosis Pulmonary Artery Stenosis, Supravalvar Stenosis of the pulmonary artery that occurs above the valve. C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C27158 Supraventricular Arrhythmia by ECG Finding Supraventricular Arrhythmia An electrocardiographic finding of an arrhythmia originating in the atrium, AV node or AV junction. C2881 Arrhythmia C99147 Neonatal Research Network Terminology C35061 Supraventricular Tachycardia Supraventricular Tachycardia A disorder characterized by an electrocardiographic finding of a tachycardia which does not originate in the ventricles or His Purkinje system. There is an abnormally high heart rate and QRS complexes are typically narrow, but aberration or preexcitation may be present. (CDISC) A tachycardia originating in the atria of the heart. C110938 Tachyarrhythmia C99147 Neonatal Research Network Terminology C99072 Surfactant Protein A Deficiency Surfactant Protein A Deficiency Surfactant Apoprotein A Deficiency Deficiency of surfactant protein A. When present in normal amounts, this protein protects the lungs against a variety of bacteria, viruses, and fungi. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C99070 Surfactant Protein ABCA3 Deficiency Surfactant Protein ABCA3 Deficiency Surfactant Apoprotein ABCA3 Deficiency Deficiency of surfactant protein ABCA3. It leads to respiratory distress that is often fatal. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C99068 Surfactant Protein B Deficiency Surfactant Protein B Deficiency Surfactant Apoprotein B Deficiency Deficiency of surfactant protein B. It presents with severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C99069 Surfactant Protein C Deficiency Surfactant Protein C Deficiency Surfactant Apoprotein C Deficiency Deficiency of surfactant protein C. It leads to progressive lung fibrosis. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C99071 Surfactant Protein D Deficiency Surfactant Protein D Deficiency Surfactant Apoprotein D Deficiency Deficiency of surfactant protein D. When present in normal amounts, this protein offers protection against pulmonary infection and inflammation. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C99067 Surfactant Protein Deficiency Surfactant Protein Deficiency Surfactant Apoprotein Abnormality A congenital deficiency of one of the surfactant proteins. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C101273 Suspected Necrotizing Enterocolitis Suspected Necrotizing Enterocolitis The diagnosis assigned when a health care practitioner feels strongly the patient has necrotizing enterocolitis, but lacks definitive proof. C84915 Necrotizing Enterocolitis C99147 Neonatal Research Network Terminology C87125 Syndactyly Syndactyly A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C3988 Syndrome of Inappropriate Antidiuretic Hormone Secretion Syndrome of Inappropriate Antidiuretic Hormone Secretion Inappropriate ADH Secretion|Syndrome of Inappropriate Vasopressin Secretion A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. A syndrome characterized by abnormally increased secretion of antidiuretic hormone. Signs and symptoms include hyponatremia and hypo-osmolality. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C102954 Systemic Arterial Hypertensive Disorder Systemic Arterial Hypertensive Disorder Hypertensive Disorder, Systemic Arterial Any condition resulting in systemically elevated blood pressure that is attributed to an arterial source. C3117 Hypertension C99147 Neonatal Research Network Terminology C110938 Tachyarrhythmia Tachyarrhythmia A disorder characterized by an arrhythmia with an above normal rate. Tachyarrhythmia is any disturbance of the heart rhythm in which the heart rate is abnormally increased. C2881 Arrhythmia C99147 Neonatal Research Network Terminology C26885 Testicular Torsion Testicular Torsion An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. C26786 Gonadal Disorder C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C102987 Testosterone Biosynthesis Deficiency Testosterone Biosynthesis Deficiency Inadequate production of circulating testosterone. C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C99080 Tethered Spinal Cord Syndrome Tethered Spinal Cord Syndrome Spinal Cord Syndrome|Tethered Cord A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. C36287 C99147 Neonatal Research Network Terminology C84505 Tetralogy of Fallot Tetralogy of Fallot A congenital heart disorder characterized by the presence of the following four abnormalities: ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C101322 Complete Atrioventricular Septal Defect with Tetralogy of Fallot Tetralogy of Fallot - Complete AV Canal Defect A rare congenital heart anomaly in which there is coexistence of tetralogy of Fallot and complete atrioventricular septal defect. The latter is characterized by defects in the atrial and ventricular septa and a common atrioventricular valve. C84505 Tetralogy of Fallot C99147 Neonatal Research Network Terminology C35069 Thalassemia Thalassemia An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. C3092 Hemoglobinopathy C99147 Neonatal Research Network Terminology C99082 Thalidomide Embryopathy Syndrome Thalidomide Embryopathy Syndrome Fetal embryopathy associated with maternal thalidomide use during pregnancy characterized by phocomelia of one or all limbs, other limb defects such as thumb abnormalities, and other structural anomalies that may include facial hemangioma, esophageal and duodenal atresia, tetralogy of Fallot, renal agenesis, and anomalies of the external ear. Long term complications may include Moebius syndrome or autism. Fetal embryopathy associated with maternal thalidomide use during pregnancy characterized by phocomelia of one or all limbs, other limb defects such as thumb abnormalities, and other structural anomalies that may include facial hemangioma, esophageal and duodenal atresia, tetralogy of Fallot, renal agenesis, and anomalies of the external ear. Long term complications may include Moebius syndrome or autism. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C85187 Thanatophoric Dysplasia Thanatophoric Dysplasia A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate. C89337 Congenital Musculoskeletal Defect C89330 Developmental Disorder C99147 Neonatal Research Network Terminology C101213 Thoracic Meningocele Thoracic Meningocele A congenital abnormality in the thoracic region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C99147 Neonatal Research Network Terminology C99128 Thoracic Myelocele Thoracic Myelocele Herniation of spinal cord tissue and meninges through a defect in the thoracic region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C98874 Myelocele C99147 Neonatal Research Network Terminology C101208 Thoracic Myelomeningocele Thoracic Myelomeningocele Thoracic Meningomyelocele A congenital abnormality in the thoracic region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Myelomeningocele|Spina Bifida Cystica C99147 Neonatal Research Network Terminology C3408 Thrombocytopenia Thrombocytopenia Thrombocytopenic Disorder A condition in which there is an abnormally small number of platelets in the circulating blood. Abnormally low level of platelets in the blood. C26323 Hematologic Disorder C36292 Laboratory Test Result C99147 Neonatal Research Network Terminology C35530 Thrombocytosis Thrombocytosis A hematology test result that indicates the presence of higher than normal platelet counts in the peripheral blood. Abnormally high level of platelets in the blood. C26323 Hematologic Disorder C36292 Laboratory Test Result C99147 Neonatal Research Network Terminology C84479 Thrombophilia Thrombophilia Hypercoagulability State A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. Abnormally increased tendency of the blood to form clots. C2902 Coagulation Defect|Coagulopathy C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C26891 Thrombosis Thrombosis The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. Formation of a blood clot within a blood vessel or the heart. C2931 Cardiovascular Disorder C2902 Coagulation Defect|Coagulopathy C99147 Neonatal Research Network Terminology C98897 Thumb Hypoplasia Thumb Hypoplasia Congenital Malformation of Thumb A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C85189 Thyroglossal Duct Cyst Thyroglossal Duct Cyst A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. C2978 Cyst C99147 Neonatal Research Network Terminology C64813 Thyrotropin Measurement Thyrotropin Measurement Thyroid Stimulating Hormone Measurement A quantitative measurement of the amount of thyrotropin present in a sample. C74742 Hormone Measurement C99147 Neonatal Research Network Terminology C99083 Tibia Fracture Tibia Fracture Fracture of Tibia Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C81324 Tonic Neck Reflex Tonic Neck Reflex An involuntary, primal response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward. An involuntary response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward, that disappears by 4-6 months of age. C81181 Infant Reflex C99147 Neonatal Research Network Terminology C98602 TORCH Antibody Measurement TORCH Antibody Measurement Toxoplasmosis, Other Infections, Rubella, Cytomegalovirus, and Herpes Simplex Virus (TORCH) Antibody Panel Measurement A group of blood tests used to detect antibodies to Toxoplasma gondii, rubella, cytomegalovirus, and herpes simplex virus to rule out congenital infections. A group of other infections may be tested as well, including varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. C49286 Hematology Test C99147 Neonatal Research Network Terminology C98609 TORCH Syndrome TORCH Syndrome Toxoplasmosis, Other Infections, Rubella, Cytomegalovirus, and Herpes Simplex Virus (TORCH) Syndrome A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. An infection caused by bacteria, viruses or parasites transmitted directly from the mother to an embryo, fetus or neonate during pregnancy or childbirth. Clinical manifestations may include intrauterine growth restriction; a petechial rash, jaundice, hepatosplenomegaly; chorioretinitis, intracranial calcification and other abnormalities of the brain; and congenital heart defects. C3101 Genetic Disorder C26726 Infectious Disease C99147 Neonatal Research Network Terminology C98585 Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C101040 Total Colonic Aganglionosis Total Colonic Aganglionosis The severe form of Hirschsprung disease, this is characterized by a complete lack of nerve cells in the large intestine, and often a partial lack in the small intestine. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary. C101074 Total Intestinal Aganglionosis C99147 Neonatal Research Network Terminology C101074 Total Intestinal Aganglionosis Total Intestinal Aganglionosis A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease. C34700 Hirschsprung Disease C99147 Neonatal Research Network Terminology C99085 Townes-Brocks Syndrome Townes-Brocks Syndrome Townes Syndrome An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C110936 Toxic Methemoglobinemia with Cyanosis Toxic Methemoglobinemia with Cyanosis Blue skin coloration due to elevated blood levels of methemoglobin. The degree of cyanosis is directly correlated to the concentration of methemoglobin in the blood. As methemoglobin is not suitable for carrying oxygen, hypoxemia becomes a serious sequela. C98805 Acquired Methemoglobinemia C99147 Neonatal Research Network Terminology C35376 Tracheal Agenesis Tracheal Agenesis Congenital Absence of Trachea Congenital absence of the trachea. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C35754 Tracheal Atresia Tracheal Atresia Congenital Atresia of Trachea A rare, fatal congenital malformation in which the trachea is severely underdeveloped. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C35079 Tracheal Disorder Tracheal Disorder Disorder of Trachea A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C78646 Tracheal Stenosis Tracheal Stenosis Narrowing of the lumen of the trachea. C35079 Tracheal Disorder C99147 Neonatal Research Network Terminology C98629 Tracheal Web Tracheal Web A rare congenital or acquired abnormality characterized by the presence of a web-like thin layer of tissue that narrows the lumen of the trachea. It may result in wheezing, dyspnea, and respiratory failure. C35079 Tracheal Disorder C99147 Neonatal Research Network Terminology C35080 Tracheoesophageal Fistula Tracheoesophageal Fistula A congenital or acquired abnormal communication between the trachea and the esophagus. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C98634 Tracheomalacia Tracheomalacia A congenital or acquired abnormality of the wall of the trachea. In congenital cases, there is lack of rigidity in the cartilage of the tracheal wall. In acquired cases, the cartilage of the tracheal wall is degenerated, secondary to tracheostomy or prolonged presence of a breathing tube, or as a complication of a tracheoesophageal fistula surgical repair. Symptoms include stridor, noisy breathing, and upper respiratory infections. C35079 Tracheal Disorder C99147 Neonatal Research Network Terminology C101037 Transient Tachypnea of the Newborn Transitory Tachypnea of Newborn A respiratory disorder characterized by higher than normal respiratory rates among premature and cesarean section delivered neonates whose lungs have not fully matured. The cause is often excess fluid in the lungs, and resolution is aided by supplemental oxygen and sometimes, antibiotics. A benign, self-limited, parenchymal lung disorder characterized by pulmonary edema resulting from delayed clearance of fetal alveolar fluid. C99232 Neonatal Respiratory System Disorder C99147 Neonatal Research Network Terminology C84742 Transposition of Great Vessels Transposition of Great Vessels A congenital cardiac defect in which two heart vessels are reversed (transposed). C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C101274 Traumatic Chylothorax Traumatic Chylothorax Accumulation of lymph fluid in the pleural cavity as a result of thoracic trauma. C98804 Acquired Chylothorax C99147 Neonatal Research Network Terminology C75018 Treacher Collins Syndrome Treacher Collins Syndrome A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C38038 Tremor Tremor The shaking movement of the whole body or just a certain part of it, often caused by problems of the neurons responsible for muscle action. Unintentional trembling or shaking of one or more body parts. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C85202 Tricuspid Valve Atresia Tricuspid Valve Atresia Congenital Atresia of Tricuspid Valve A congenital heart defect characterized by the complete lack of formation of the tricuspid valve. Cyanosis is the predominant clinical symptom. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C50843 Tricuspid Valve Regurgitation Tricuspid Valve Regurgitation The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C50783 Tricuspid Valve Stenosis Tricuspid Valve Stenosis Narrowing or stricture of the tricuspid orifice of the heart. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C85204 Triploidy Syndrome Triploidy Syndrome A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C3424 Tuberous Sclerosis Tuberous Sclerosis Tuberous Sclerosis Syndrome Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. C84348 Phakomatosis C99147 Neonatal Research Network Terminology C26900 Turner Syndrome Turner Syndrome A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C98583 Type 1 Thanatophoric Dysplasia Type 1 Thanatophoric Dysplasia Thanatophoric Dysplasia, Type 1 Thanatophoric dysplasia characterized by a normally shaped skull and curved femurs. It is the most common type of thanatophoric dysplasia. C85187 Thanatophoric Dysplasia C99147 Neonatal Research Network Terminology C98584 Type 2 Thanatophoric Dysplasia Type 2 Thanatophoric Dysplasia Thanatophoric Dysplasia, Type 2 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. C85187 Thanatophoric Dysplasia C99147 Neonatal Research Network Terminology C99099 Type I Acrocephalosyndactyly Type I Acrocephalosyndactyly Acrocephalosyndactyly Type I An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes. C34348 Acrocephalosyndactyly C99147 Neonatal Research Network Terminology C98590 Type I Total Anomalous Pulmonary Venous Return Type I Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return, Type I (Supracardiac)|Type I (Supracardiac) Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the superior vena cava. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 1, supracardiac TAPVR, the pulmonary veins drain to the right atrium via the superior vena cava. In this type of TAPVR, the pulmonary veins come together behind the heart and then drain upwards to an abnormal vertical vein. This vein joins the innominate vein which connects to the right superior vena cava and drains to the right atrium. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C98873 Type II Acrocephalopolysyndactyly Type II Acrocephalopolysyndactyly Acrocephalopolysyndactyly Type II|Carpenter 's Syndrome An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. C34348 Acrocephalosyndactyly C99147 Neonatal Research Network Terminology C98592 Type II Total Anomalous Pulmonary Venous Return Type II Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return, Type II (Intracardiac)|Type II (Intracardiac) Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the coronary sinus. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 2, intracardiac TAPVR, the pulmonary veins come together behind the heart and then drains to the right atrium through the coronary sinus. The coronary sinus is the vein that normally returns blood from the heart muscle itself back to the right atrium after its oxygen has been depleted. The coronary sinus drains directly into the right atrium. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C98597 Type III Total Anomalous Pulmonary Venous Return Type III Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return, Type III (Infradiaphragmatic/Infracardiac)|Type III (Infradiaphragmatic/Infracardiac) Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return in which the common pulmonary vein connects to the portal venous system through the diaphragm. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 3, infracardiac TAPVR, the pulmonary veins drain to the right atrium via the hepatic (liver) veins and inferior vena cava. In this type, the pulmonary veins join together behind the heart and then typically drain downwards, connecting to the liver's portal vein system. They then drain through the vascular bed of the liver and enter the right atrium from the hepatic veins. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C98598 Type IV Total Anomalous Pulmonary Venous Return Type IV Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return, Type IV (Mixed)|Type IV (Mixed) Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return in which the right and left pulmonary arteries drain into different sites. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 4, TAPVR, the right and left pulmonary arteries drain into different sites. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C99100 Type V Acrocephalosyndactyly Type V Acrocephalosyndactyly Acrocephalosyndactyly Type V An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes. C34348 Acrocephalosyndactyly C99147 Neonatal Research Network Terminology C98641 Tyrosinemia Type I Tyrosinemia Type I Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. C97090 Amino Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C12326 Undescended Testes Undescended Testes Undescended Testicle The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C101188 Unilateral Anophthalmos Unilateral Anophthalmos Anophthalmos, Unilateral A rare congenital abnormality characterized by the complete absence of ocular tissue in one orbit. C98814 Anophthalmos C99147 Neonatal Research Network Terminology C101190 Unilateral Microphthalmos Unilateral Microphthalmos Microphthalmos, Unilateral A congenital abnormality characterized by the presence of one abnormally small eye globe and one normally sized eye globe. C98989 Microphthalmos C99147 Neonatal Research Network Terminology C101269 Unilateral Optic Nerve Hypoplasia Unilateral Optic Nerve Hypoplasia Hypoplasia of the Optic Nerve, Unilateral|Unilateral Hypoplasia of the Optic Nerve A congenital abnormality characterized by the underdevelopment of one optic nerve. C98999 Optic Nerve Hypoplasia C99147 Neonatal Research Network Terminology C101220 Unilateral Renal Agenesis Unilateral Renal Agenesis A congenital abnormality characterized by the absence of one kidney. C99041 Renal Agenesis C99147 Neonatal Research Network Terminology C84785 Urea Cycle Metabolism Disorder Urea Cycle Metabolism Disorder Disorder of Urea Cycle Metabolism A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C98901 Ureterovesical Obstruction Ureterovesical Obstruction Ureterovesico Junction Obstruction Blockage of the opening between the ureter and the bladder resulting in the reduction or prevention of the urine flow from the ureter to the bladder. C79805 Urinary Tract Obstruction C99147 Neonatal Research Network Terminology C3430 Urinary System Disorder Urinary System Disorder Disorder of Urinary System Disorders of any part of the urologic system. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C50791 Urinary Tract Infection Urinary Tract Infection Urinary Tract Infectious Disease A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. An infection affecting one or more parts of the urinary tract. C26726 Infectious Disease C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C79805 Urinary Tract Obstruction Urinary Tract Obstruction Blockage of the normal flow of contents of the urinary tract. C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C99103 Uterine Agenesis Uterine Agenesis Absence of Uterus|Uterus Absent A congenital abnormality characterized by the complete absence of the uterus. C103185 Congenital Reproductive System Abnormality C27020 Female Reproductive System Disorder C99147 Neonatal Research Network Terminology C99104 UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure. C84723 Galactosemia C99147 Neonatal Research Network Terminology C99105 VACTERL Association VACTERL Association Vertebral Abnormalities, Anal Atresia, Cardiac Abnormalities, Tracheo-Esophageal Fistula, Renal Anomalies, Limb Defects Syndrome An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities. C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology C79847 Vaginal Fistula Vaginal Fistula Fistulous Opening in Vagina An abnormal communication between the vagina and another organ or cavity. C27020 Female Reproductive System Disorder C99147 Neonatal Research Network Terminology C45525 Valvular Heart Disorder Valvular Heart Disorder Disorder of Heart Valve|Heart Valve Disorder Any heart disorder characterized by a defect in valve structure or function. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C74986 Van der Woude Syndrome Van Der Woude Syndrome A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C92914 Variable Deceleration Variable Deceleration Finding of Variable Deceleration An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to less than two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minutes, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations. An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to less than two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minutes, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations.|An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minutes, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology C96407 Varicella Zoster Infection Varicella Zoster Infection Varicella-Zoster Virus Infection A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. C3439 Viral Infection C99147 Neonatal Research Network Terminology C99106 Vascular Ring Vascular Ring Vascular Ring of Aorta An unusual congenital abnormality in which the aorta or aortic branches encircle the trachea and esophagus. Signs and symptoms include difficulty swallowing and eating, persistent cough, noisy breathing, and acid reflex. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C98642 Vein of Galen Malformation Vein of Galen Malformation An arteriovenous malformation in the vein of Galen that is located at the base of the brain. The malformation may result in developmental delays, hydrocephalus, seizures, and congestive heart failure. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99147 Neonatal Research Network Terminology C98643 Venous Stenosis Venous Stenosis A finding indicating narrowing of a vein in one or multiple areas. C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C99107 Venous Thrombosis Venous Thrombosis The formation of a blood clot (thrombus) in the lumen of a vein. Partial or complete occlusion of the lumen of a vein by a thrombus. C26891 Thrombosis C99147 Neonatal Research Network Terminology C101339 Venous Thrombosis Related to Vascular Access Complication Venous Thrombosis Related to Vascular Access Complication Acquired Secondary Venous Thrombosis due to Catheter Complication|Venous Thrombosis due to Vascular Access Complication The formation of a thrombus in the vein as a direct result of an activity associated with vascular access. C99107 Venous Thrombosis C99147 Neonatal Research Network Terminology C26924 Ventricular Arrhythmia Ventricular Arrhythmia A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles. C2881 Arrhythmia C99147 Neonatal Research Network Terminology C50799 Ventricular Fibrillation Ventricular Fibrillation A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) An irregular heart rhythm, usually associated with a rapid rate, that is caused by abnormal electrical activity within the ventricles. C26924 Ventricular Arrhythmia C99147 Neonatal Research Network Terminology C84506 Ventricular Septal Defect Ventricular Septal Defect The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. The presence of a defect (opening) in the septum that separates the two ventricles of the heart. The VSD can be congenital or acquired. C84482 Congenital Septal Defect C99147 Neonatal Research Network Terminology C50802 Ventricular Tachycardia Ventricular Tachycardia A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) A tachycardia originating in the ventricles of the heart. C26924 Ventricular Arrhythmia C99147 Neonatal Research Network Terminology C98647 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Very Long-Chain Acyl-CoA Dehydrogenase Deficiency VLCAD|Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. C3492 Enzyme Deficiency C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C84467 Vesicoureteral Reflux Vesicoureteral Reflux Vesicoureteric Reflux Abnormal flow of urine from the urinary bladder back into the ureters. C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C35126 Vision Disorder Vision Disorder Disorder of Visual System|Visual System Disorder Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from eye diseases, optic nerve diseases, visual pathway diseases, occipital lobe diseases, ocular motility disorders' and other conditions. C63711 Sensory Disorder C99147 Neonatal Research Network Terminology C85221 Vitamin B6 Deficiency Vitamin B6 Deficiency Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. C35772 Vitamin Deficiency Disorder C99147 Neonatal Research Network Terminology C35772 Vitamin Deficiency Disorder Vitamin Deficiency Disorder Vitamin Deficiency A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. C26836 Nutritional Disorder C99147 Neonatal Research Network Terminology C99108 Vitamin K Deficiency Vitamin K Deficiency Vitamin K Deficiency Coagulation Disorder Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. C27215 Coagulation Factor Deficiency C35772 Vitamin Deficiency Disorder C99147 Neonatal Research Network Terminology C47814 Vocal Cord Paralysis Vocal Cord Paralysis Vocal Cord Palsy Paralysis of the muscles of one or both vocal cords. Signs and symptoms include hoarseness, weak voice, dyspnea, and coughing. Affected individuals are at risk for aspiration pneumonia. Nerve injury that results in inability to move the vocal cords. C26835 Nervous System Disorder C118420 C99147 Neonatal Research Network Terminology C68677 von Willebrand Disease von Willebrand Disease von Willebrand Disorder Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. C27215 Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C85222 Waardenburg Syndrome Waardenburg Syndrome Waardenburg's Syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C99109 Walker-Warburg Syndrome Walker-Warburg Syndrome Walker-Warburg Muscular Dystrophy A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities. C3101 Genetic Disorder C84910 Muscular Dystrophy C99147 Neonatal Research Network Terminology C62240 Wandering Atrial Pacemaker by ECG Finding Wandering Atrial Pacemaker An electrocardiographic finding of a supraventricular arrhythmia characterized by 3 or more distinct P wave morphologies with an isoelectric baseline, variable PR intervals and no predominant atrial rhythm. The ventricular rate is typically below 100 beats per minute. (CDISC) C27158 Supraventricular Arrhythmia C99147 Neonatal Research Network Terminology C98670 Werdnig-Hoffmann Disease Werdnig-Hoffmann Disease The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia. C85075 Spinal Muscular Atrophy C99147 Neonatal Research Network Terminology C78718 Wheezing Wheezing A symptom and a finding during physical examination, characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways. The most common causes of wheezing are asthma, chronic obstructive pulmonary disease, tracheobronchitis, and pulmonary edema. A high-pitched breath sound resulting from a narrowing or obstruction of the small airways. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C85232 Williams Syndrome Williams Syndrome A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White Syndrome A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes. C78245 Cardiac Conduction Disorder C99147 Neonatal Research Network Terminology C61271 Wolman Disease Wolman Disease Wolman's Disease A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands. C3101 Genetic Disorder C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C85239 Zellweger Syndrome Zellweger Syndrome A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology