Action 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 C 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 C 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 C 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. C85866 Autosomal Recessive Disorder C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C 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 C 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 C C103188 Acquired Phrenic Nerve Injury Acquired Phrenic Nerve Injury Phrenic Nerve Injury, Acquired Damage to the phrenic nerve that was not present at birth. C3671 Injury C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C 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. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C 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). C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C 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 C C84543 Albinism Albinism A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin. C85866 Autosomal Recessive Disorder C97174 Congenital Skin Disorder C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C99147 Neonatal Research Network Terminology C C74732 Alpha-fetoprotein Measurement Alpha-fetoprotein Measurement Alpha-1-Fetoprotein Measurement The determination of the amount of alpha-fetoprotein present in a sample. C92745 Blood Protein Measurement C99147 Neonatal Research Network Terminology C 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 C 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. C103185 Congenital Reproductive System Abnormality C99147 Neonatal Research Network Terminology C C34370 Amelia Amelia A congenital malformation characterized by the complete absence of all limbs. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C C26698 Apnea Apnea Transient cessation of respiration. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C98823 Apnea of Prematurity Apnea of Prematurity The cessation of breathing in premature infants that lasts for more than 15-20 seconds. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C 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. C26726 Infectious Disease C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C85866 Autosomal Recessive Disorder C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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. C85866 Autosomal Recessive Disorder C75464 Polycystic Kidney Disease C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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). C87070 Hypotonia C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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. C85866 Autosomal Recessive Disorder C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C92721 Pregnancy Related Screening Test C99147 Neonatal Research Network Terminology C C32221 Body Part Body Part Body Structure Any part of an organism. C12219 Anatomic Structure, System, or Substance C99147 Neonatal Research Network Terminology C 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 C C9175 Bowel Obstruction Bowel Obstruction Intestinal Obstruction Blockage of the normal flow of the intestinal contents within the bowel. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C 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. C101035 Neonatal Injury Related to Birth C3310 Paralysis C99147 Neonatal Research Network Terminology C 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 C 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. C99246 Neonatal Jaundice C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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. C3079 Heart Disorder C101216 Myopathy C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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.) C35126 Vision Disorder C99147 Neonatal Research Network Terminology C 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 C 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. C81236 Birth Complication C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C C2943 Choledochal Cyst Choledochal Cyst Cystic dilatation of the hepatic duct or bile duct. C2978 Cyst C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C83006 Cholestasis Cholestasis Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 A 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 D C81315 Phenylketonuria Classical Phenylketonuria PKU A disorder characterized by the body's inability to break down and utilize the essential amino acid phenylalanine. C97090 Amino Acid Metabolism Disorder C85866 Autosomal Recessive Hereditary Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C84978 Osteochondrodysplasia C99147 Neonatal Research Network Terminology C C2902 Coagulation Disorder Coagulation Defect A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C 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 C99147 Neonatal Research Network Terminology C 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 C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C C78243 Colonic Stenosis Colonic Stenosis Narrowing of the lumen of colon. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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) C2881 Arrhythmia C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C 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 C99147 Neonatal Research Network Terminology D C87077 Ankyloblepharon Congenital Ankyloblepharon A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. C99208 Eye Finding C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C99147 Neonatal Research Network Terminology C 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 C 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 C C98891 Congenital Chylothorax Congenital Chylothorax Chylothorax that is present at birth. C79546 Chylothorax C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C97172 Congenital Nervous System Disorder C26769 Facial Nerve Palsy C99147 Neonatal Research Network Terminology C 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 C 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 C C98876 Congenital Hydrocephalus Congenital Hydrocephalus Hydrocephalus that is present at birth. C97172 Congenital Nervous System Disorder C3111 Hydrocephalus C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C C103156 Congenital Phrenic Nerve Injury Congenital Phrenic Nerve Injury Phrenic Nerve Injury, Congenital Damage to the phrenic nerve that is present at birth. C3671 Injury C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C 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. C97172 Congenital Nervous System Disorder C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C C98912 Diaphragmatic Eventration Diaphragmatic Eventration A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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. C3408 Thrombocytopenia C99147 Neonatal Research Network Terminology C 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 C 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 C C78260 Duodenal Stenosis Duodenal Stenosis Narrowing of the lumen of the duodenum. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C C98919 Ear Tag Ear Tag Ear Tag|Periauricular Tag A small preauricular skin tag. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C 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 C 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 C C3002 Edema Edema Accumulation of an excessive amount of fluid in cells or intercellular tissues. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C C50555 Epidural Hemorrhage Epidural Hemorrhage Intracranial hemorrhage into the epidural space. C50438 Intracranial Hemorrhage C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C C53506 Esophageal Varices Esophageal Varices Abnormally dilated veins of the esophagus. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C C9224 Esophagitis Esophagitis An acute or chronic inflammatory process affecting the esophageal wall. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C C34599 Excoriation Excoriation Excoriation of Skin Self-inflicted tearing or wearing off of skin. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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. C26733 Cranial Nerve Disorder C99147 Neonatal Research Network Terminology C 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 C 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 A 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 C 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 C 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 C 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. C92721 Pregnancy Related Screening Test C99147 Neonatal Research Network Terminology C 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. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C C92789 Fetal Heart Deceleration Fetal Heart Deceleration A decrease in the fetal heart rate that has a duration of less than 10 minutes. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C 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. C92714 Fetal Examination C99147 Neonatal Research Network Terminology C 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. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C 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. C9118 Sarcoma C99147 Neonatal Research Network Terminology C 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 C C3046 Fracture Fracture Fracture of Bone A traumatic injury to the bone in which the continuity of the bone is broken. C3671 Injury C99147 Neonatal Research Network Terminology C 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. C101317 Fracture of Long Bone Related to Birth C99147 Neonatal Research Network Terminology C 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. C3046 Fracture C101035 Neonatal Injury Related to Birth C99147 Neonatal Research Network Terminology C 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. C101035 Neonatal Injury Related to Birth C50745 Skull Fracture C99147 Neonatal Research Network Terminology C 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 C98829 Autosomal Dominant Disorder C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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. C117254 Sphingolipidosis C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C 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. C3117 Hypertension C34941 Pregnancy Complication C99147 Neonatal Research Network Terminology C C26782 Glaucoma Glaucoma Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. C35126 Vision Disorder C99147 Neonatal Research Network Terminology C 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. C3268 Nervous System Neoplasm C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C C98291 Gonadal Teratoma Gonadal Teratoma Teratoma, Gonads A teratoma that arises from the testis or ovary. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C99147 Neonatal Research Network Terminology C 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 C 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 C C34660 Head Injury Head Injury Injury of Head A traumatic injury to the head. C3671 Injury C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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. C85021 Preeclampsia C99147 Neonatal Research Network Terminology C 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 C C3085 Hemangioma Hemangioma A benign vascular neoplasm characterized by the formation of capillary-sized or cavernous vascular channels. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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 C 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 C99147 Neonatal Research Network Terminology C 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 C C84481 Hemochromatosis Hemochromatosis An inherited metabolic disorder characterized by iron accumulation in the tissues. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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. C3408 Thrombocytopenia C99147 Neonatal Research Network Terminology C 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 C 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. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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 C99147 Neonatal Research Network Terminology C 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 C26729 Connective Tissue Disorder C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C3093 Hemophilia C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology D C87083 Heterotaxia Heterotaxia Syndrome The abnormal arrangement or position of thoracic and/or abdominal organs in relation to each other, often occurring in a right/left transposition. C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology A 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. C97151 Congenital Systemic Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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, including birth trauma, craniosynostosis, Arnold-Chiari deformity, meningitis, and cri-du-chat syndrome. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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 C C3106 Histiocytosis Histiocytosis Histiocytic Syndrome A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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 C85866 Autosomal Recessive Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C C27088 Hyperbilirubinemia Hyperbilirubinemia Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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 C C3128 Hypotension Hypotension Low Blood Pressure Blood pressure that is abnormally low. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C C87070 Hypotonia Hypotonia Poor Muscle Tone A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 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 C 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 C 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 C 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 C 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 C 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. C89330 Developmental Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C C110943 Musculoskeletal Injury Injury of Musculoskeletal System Damage to the muscles, bones and their supportive structral attachments. C3671 Injury C99147 Neonatal Research Network Terminology C 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 C C92816 Intermittent Deceleration Intermittent Deceleration Fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C16205 Healthcare Activity C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C C98963 Intestinal Volvulus Intestinal Volvulus Twisting of a loop of bowel that results in intestinal obstruction. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C 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. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C 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. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C 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 C 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. C85866 Autosomal Recessive Disorder C101334 Organic Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C C25215 Karyotype Karyotype The assessment of the chromosomal morphology and number in somatic cells of an individual. C15709 Genetic Testing C99147 Neonatal Research Network Terminology C 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. C26920 Encephalopathy C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C C98970 Laryngeal Web Laryngeal Web Tissue that develops between the vocal cords. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C C98971 Laryngomalacia Laryngomalacia Increased collapsibility of the larynx. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C 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. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C 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 C 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. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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 C C3192 Lipoma Lipoma A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 A 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 C99147 Neonatal Research Network Terminology D C61283 Antiphospholipid Syndrome Lupus Anticoagulant Disorder A syndrome associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses, marked by the presence of antibodies directed against phospholipids. C2889 Autoimmune Disease C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C99147 Neonatal Research Network Terminology C 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. C98829 Autosomal Dominant Disorder C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C 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 C 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. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C 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. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C 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. C3268 Nervous System Neoplasm C99147 Neonatal Research Network Terminology C 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. C98829 Autosomal Dominant Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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. C85866 Autosomal Recessive Disorder C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C C50654 Mitral Valve Stenosis Mitral Valve Stenosis Narrowing of the left atrioventricular mitral orifice. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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. C3079 Heart Disorder C25738 Infarct C99147 Neonatal Research Network Terminology C 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 C 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. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C98996 Neonatal Disorder C3408 Thrombocytopenia C99147 Neonatal Research Network Terminology C C98996 Neonatal Disorder Neonatal Disorder A non-neoplastic or neoplastic disorder which occurs during the neonatal period. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C 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. C98996 Neonatal Disorder C103170 Postnatal Drug Withdrawal C99147 Neonatal Research Network Terminology C C84446 Neonatal Hepatitis Neonatal Hepatitis Hepatitis developing during the neonatal period. C2990 Gastrointestinal Disorder C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C101035 Neonatal Injury Related to Birth Neonatal Injury Related to Birth Birth Trauma of Fetus An injury sustained to a neonate during the birthing process. C3671 Injury C99147 Neonatal Research Network Terminology C 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. C101321 Neonatal Drug Withdrawal C99147 Neonatal Research Network Terminology C 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 C 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. C98996 Neonatal Disorder C3408 Thrombocytopenia C99147 Neonatal Research Network Terminology C 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 C 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. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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. C3268 Nervous System Neoplasm C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C97092 Lipid Metabolism Disorder C99147 Neonatal Research Network Terminology C 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 C 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. C98829 Autosomal Dominant Disorder C99147 Neonatal Research Network Terminology C 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. C77140 Clinical Test Result C99147 Neonatal Research Network Terminology C C34602 Ocular Injury Ocular Injury Injury of Eye Region Damage to the eye. C3671 Injury C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C C50685 Pallor Pallor An unusual or extreme paleness, state of decreased skin or mucosal coloration. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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. C83006 Cholestasis C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C C101327 Pericardial Anomaly Pericardial Anomaly Any abnormality involving the pericardium. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C C3319 Pericardial Effusion Pericardial Effusion Fluid collection within the pericardial sac, usually due to inflammation. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C 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 Respiratory Tract Aspiration C99147 Neonatal Research Network Terminology C 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 C C99261 Perinatal Intracranial Hemorrhage Perinatal Intracranial Hemorrhage 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 C 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. C3143 Jaundice C99147 Neonatal Research Network Terminology C 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. C101324 Perinatal Intraventricular Hemorrhage C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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. C85866 Autosomal Recessive Disorder C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C 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 C C99018 Plethoric Face Plethoric Face A finding that refers to a person with erythematous face. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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 C C99012 Pneumoperitoneum Pneumoperitoneum Free air within the peritoneal cavity. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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 C 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) C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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. C3117 Hypertension C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C C99024 Premature Closure of the Ductus Arteriosus Premature Closure of the Ductus Arteriosus Closure of the ductus arteriosus prior to birth. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C 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 C 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 C C84509 Primary Malignant Neoplasm Primary Malignant Neoplasm A malignant tumor at the original site of growth. C9305 Malignant Neoplasm C99147 Neonatal Research Network Terminology C C92863 Prolonged Acceleration Prolonged Acceleration Prolonged Fetal Heart Rate Acceleration A fetal heart rate acceleration that lasts 2 to less than 10 minutes. C92788 Fetal Heart Acceleration C99147 Neonatal Research Network Terminology C 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. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C101334 Organic Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C 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 Thrombophilia C99147 Neonatal Research Network Terminology C 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 Thrombophilia C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C C3120 Pulmonary Hypertension Pulmonary Hypertension Increased pressure within the pulmonary circulation due to lung or heart disorder. C3117 Hypertension C99147 Neonatal Research Network Terminology C 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 C C103226 Pulmonary Trunk Hypoplasia Pulmonary Trunk Hypoplasia Underdeveloped pulmonary arteries. C98882 Congenital Lung Malformation C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C77140 Clinical Test Result C99147 Neonatal Research Network Terminology C 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. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C C78589 Rectal Stenosis Rectal Stenosis Narrowing of the rectal lumen. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C 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 C 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. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C 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 C 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. C26733 Cranial Nerve Disorder C99147 Neonatal Research Network Terminology C 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. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C C83507 Respiratory Tract Aspiration Respiratory Tract Aspiration Accidental inhalation of a foreign material into the lungs. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C 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. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C 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. C92948 Rh factor Measurement C99147 Neonatal Research Network Terminology A 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 D C6514 Skeletal Muscle Neoplasm Rhabdomyomatous Neoplasm A benign or malignant mesenchymal neoplasm arising from skeletal muscle. C3262 Neoplasm|Neoplastic Disease C99147 Neonatal Research Network Terminology C 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. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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. C92721 Pregnancy Related Screening Test C99147 Neonatal Research Network Terminology C 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 C 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 C C87118 Sacral Dimple Sacral Dimple A sacral dimple, or pilonidal dimple, is 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. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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. C3262 Neoplasm C99147 Neonatal Research Network Terminology C 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 C 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. C96413 Brain Disorder C99147 Neonatal Research Network Terminology C 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. C2890 Bacterial Disease C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C C4905 Skin Hemangioma Skin Hemangioma Hemangioma of Skin A hemangioma arising from the skin. C3085 Hemangioma C99147 Neonatal Research Network Terminology C C99062 Skin Injury Skin Injury Injury of Integument Damage to the skin. C3671 Injury C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 A 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. C97092 Lipid Metabolism Disorder C99147 Neonatal Research Network Terminology C 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. C101035 Neonatal Injury Related to Birth C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C101035 Neonatal Injury Related to Birth C50750 Spinal Cord Injury C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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. C35126 Vision Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C 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. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C C3408 Thrombocytopenia Thrombocytopenia Thrombocytopenic Disorder A condition in which there is an abnormally small number of platelets in the circulating blood. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C C35530 Thrombocytosis Thrombocytosis A hematology test result that indicates the presence of higher than normal platelet counts in the peripheral blood. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C 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. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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. C3101 Genetic Disorder C26726 Infectious Disease C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C C35376 Tracheal Agenesis Tracheal Agenesis Congenital Absence of Trachea Congenital absence of the trachea. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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 C 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. C26726 Infectious Disease C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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. C84482 Congenital Septal Defect C99147 Neonatal Research Network Terminology C 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 C 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 C 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 C 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 C 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 C 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 C 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. C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C 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 C 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 C 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. C85866 Autosomal Recessive Disorder C84910 Muscular Dystrophy C99147 Neonatal Research Network Terminology C 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. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C 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. C85866 Autosomal Recessive Disorder C99147 Neonatal Research Network Terminology