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. C3492 Enzyme Deficiency C3101 Genetic Disorder 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. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C106273 ABO Hemolytic Disease of the Newborn ABO Isoimmunization Hemolytic Disease due to ABO Isoimmunization A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-A or anti-B antibodies from a mother to the child via the placenta against A or B antigens of the newborn's blood. A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-A or anti-B antibodies from a mother to the child via the placenta against A or B antigens of the newborn's blood. C101304 Hemolytic Disease of the Newborn C99147 Neonatal Research Network Terminology C C98803 Acquired Hydrocephalus Acquired Hydrocephalus Hydrocephalus that results from head trauma, brain tumors, intracranial hemorrhage, or meningitis. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that is acquired after birth. C3111 Hydrocephalus C99147 Neonatal Research Network Terminology 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. An impairment of the function of the phrenic nerve as a consequence of disruption of the nerve itself or its origins in cervical roots 3 through 5 that has occurred after birth. C27580 Peripheral Nervous System Disorder C99016 Phrenic Nerve Injury C99147 Neonatal Research Network Terminology C C103189 Acquired Phrenic Nerve Palsy Acquired Phrenic Nerve Palsy Damage to the phrenic nerve that results in paralysis of the hemidiaphragm and was not present at birth. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 that has occurred after birth. C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology 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. Damage to the renal tubular epithelial cells resulting in acute kidney injury. 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). Diminished production of glucocorticoids. C3009 Endocrine System 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. C97174 Congenital Skin Disorder C3101 Genetic 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. C3101 Genetic 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. C49286 Hematology Test 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. External genitalia that are not completely consistent with the genetic sex. C103185 Congenital Reproductive System Abnormality C99147 Neonatal Research Network Terminology C C84552 Amniotic Band Syndrome Amniotic Band Syndrome Deformity due to Amniotic Band A rare congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. It may result in the formation of constriction rings around the digits and upper and lower extremities, swelling of the extremities and congenital amputations. A congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C C98811 Anasarca Anasarca A condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition. Profound accumulation of an excessive amount of fluid throughout the body. C3002 Edema C99147 Neonatal Research Network Terminology 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. Abnormally low level of red blood cells and/or hemoglobin in the blood. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C C98814 Anophthalmos Anophthalmos A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C C26698 Apnea Apnea Transient cessation of respiration. Cessation of air flow. 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. C26698 Apnea 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.|Inflammation of the vermiform appendix. C2990 Gastrointestinal Disorder C26726 Infectious Disease 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. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C51224 Atrial Flutter Atrial Flutter A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) A rapid heart rate, associated with a regular rhythm, that is caused by abnormal electrical activity within the atria. C27158 Supraventricular Arrhythmia C99147 Neonatal Research Network Terminology 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. C3101 Genetic Disorder C75464 Polycystic Kidney Disease C99147 Neonatal Research Network Terminology C C92741 Baseline Fetal Heart Rate Baseline Fetal Heart Rate The number of fetal cardiac beats per minute, considered as the reference value against which measurements in the future can be made. The mean fetal heart rate rounded to increments of 5 beats per minute during a 10 minute segment, excluding accelerations and decelerations, periods of marked variability, or baseline segments that differ by more than 25 beats per minute. In any given 10 minute window, the minimum baseline duration must be at least 2 minutes but not necessarily contiguous. C92716 Fetal Heart Rate C99147 Neonatal Research Network Terminology 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). A mild decrease in muscle tone, which is not a manifestation of another disorder that may cause hypotonia, that usually appears early in infancy and has a favorable outcome. C87070 Hypotonia C99147 Neonatal Research Network Terminology 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. C3492 Enzyme Deficiency C3101 Genetic 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 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. A blockage of the passage of the intestinal contents. C2990 Gastrointestinal 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. A condition characterized by reduced or absent movement of the ipsilateral shoulder, arm or hand as a consequence of an injury to the brachial plexus, cervical roots 5 through 8 and thoracic root 1, sustained during the birthing process. C101035 Birth Injury|Neonatal Injury Related to Birth C3310 Paralysis C99147 Neonatal Research Network Terminology 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. Yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn. It commonly appears one to two weeks after birth and lasts longer than physiologic jaundice. C99246 Neonatal Jaundice C99147 Neonatal Research Network Terminology C C81306 Breathing Effort Score Breathing Effort Score A component of the Apgar score, it is the numerical value assigned to the assessment of breathing effort by a neonate. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry. A component of the Apgar score, it is the numerical value assigned to the assessment of the newborn's breathing effort. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry. C118807 C99147 Neonatal Research Network Terminology C C98847 Bronchomalacia Bronchomalacia A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing. Increased bronchial collapsibility. C98541 Chronic Lung Disease C99147 Neonatal Research Network Terminology 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. A disease of the heart muscle. C3079 Heart Disorder C101216 Myopathy 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.) C26767 C99147 Neonatal Research Network Terminology C C26715 Cellulitis Cellulitis Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. An infection of the skin and subcutaneous tissues with induration and erythema. C2890 Bacterial Disease C99147 Neonatal Research Network Terminology 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. A subperiosteal hemorrhage limited to the surface of one cranial bone. It is seen in the newborn and often related to the birthing process. C81236 Birth Complication C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C3390 Cerebrovascular Accident Cerebrovascular Accident Stroke A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. Brain tissue necrosis due to a disturbance in the blood flow or hemorrhage. C50438 Intracranial Hemorrhage C99147 Neonatal Research Network Terminology C C83006 Cholestasis Cholestasis Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. Diminished or obstructed bile flow. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C110923 Chorioretinitis Chorioretinitis Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. A form of posterior uveitis in which the choroid and retina are inflamed. C26767 C99208 Eye Finding C99147 Neonatal Research Network Terminology C C79546 Chylothorax Chylothorax A milky pleural effusion resulting from accumulation of lymph fluid in the pleural cavity. Causes include malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, sarcoidosis, and congenital causes. A pleural effusion resulting from the accumulation of lymph in the pleural cavity. C3331 Pleural Effusion|Pleural effusion C99147 Neonatal Research Network Terminology 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. A malformation involving one or both feet, in which the affected foot is rotated inward and downward. 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. A condition of abnormal blood clotting or bleeding. C2931 Cardiovascular Disorder C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C C84644 Cogan-Reese Syndrome Cogan-Reese Syndrome A very rare syndrome characterized by eye abnormalities that lead to vision impairment. These abnormalities include iris atrophy, decreased corneal endothelium, iris nodules, adhesion of the iris to the lens and glaucoma. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology 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) Complete disassociation of the atrial electrical impulse conduction to the ventricles. C2881 Arrhythmia 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. A morphologic defect of an organ, part of an organ, or larger region of the body that results from an intrinsically abnormal developmental process during gestation. C36287 C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology 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|Congenital Malformation C99147 Neonatal Research Network Terminology C C87077 Congenital Ankyloblepharon Congenital Ankyloblepharon A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. A finding in extremely premature newborns in which the normal epithelial adhesions connecting the upper and lower eyelids have not yet degraded. C99208 Eye Finding C99147 Neonatal Research Network Terminology 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|Congenital Malformation C99147 Neonatal Research Network Terminology C C98888 Congenital Cataract Congenital Cataract Cataract that is present at birth. C26713 Cataract C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C C99265 Congenital Complete Atrioventricular Block Congenital Complete Atrioventricular Block A disorder characterized by an electrocardiographic finding of a complete atrioventricular block that manifests during fetal life or soon after birth. It may be isolated or associated with other congenital heart defects. Isolated congenital complete atrioventricular block may be associated with maternal connective tissue disorders. C50501 Atrioventricular Block, Third Degree|Complete Atrioventricular Block C78245 Cardiac Conduction Disorder C99147 Neonatal Research Network Terminology 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. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve that has occurred before birth. C97172 Congenital Nervous System Disorder C26769 Facial Nerve Palsy C99147 Neonatal Research Network Terminology C C40425 Congenital Hamartoma Congenital Hamartoma A hamartomatous lesion which is present at birth. A benign tumor-like nodule composed of an overgrowth of mature cells and tissues which is present at birth. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C C98876 Congenital Hydrocephalus Congenital Hydrocephalus Hydrocephalus that is present at birth. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that is present at birth. C97172 Congenital Nervous System Disorder C3111 Hydrocephalus C99147 Neonatal Research Network Terminology C C99267 Congenital Malformation Syndrome Congenital Malformation Syndrome A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C C89337 Congenital Musculoskeletal Defect Congenital Musculoskeletal Defect Congenital Abnormality of the Musculoskeletal System An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. C2849 Congenital Abnormality|Congenital Malformation C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology 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|Congenital Malformation 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. An impairment of the function of the phrenic nerve as a consequence of disruption of the nerve itself or its origins in cervical roots 3 through 5 that has occurred before birth. C27580 Peripheral Nervous System Disorder C99016 Phrenic Nerve Injury C99147 Neonatal Research Network Terminology 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. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 that has occurred before birth. C97172 Congenital Nervous System Disorder C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology 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|Congenital Malformation C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C C98903 Conjoined Twins Conjoined Twins A monoamniotic twin gestation in which the twins share one or more organs. A monoamniotic twin gestation in which the twins share one or more organs. C90491 C99147 Neonatal Research Network Terminology C C98908 Cryptophthalmos Syndrome Cryptophthalmos Syndrome A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C C2978 Cyst Cyst A sac-like closed membranous structure that may be empty or contain fluid or amorphous material. C36287 C99147 Neonatal Research Network Terminology C C26740 Dehydration Dehydration A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis. A state characterized by lower than normal levels of water in the body. C9229 Systemic Disorder C99147 Neonatal Research Network Terminology C C43263 Diabetes Insipidus Diabetes Insipidus A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. A disorder characterized by excretion of large amounts of dilute urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C C98912 Diaphragmatic Eventration Diaphragmatic Eventration A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C2992 Disseminated Intravascular Coagulation Disseminated Intravascular Coagulation A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. Excessive activation of the body's coagulation system resulting in systemic microvascular thrombi formation. C2902 Coagulation Defect|Coagulopathy C99147 Neonatal Research Network Terminology 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. Abnormally low level of platelets in the blood associated with exposure to a pharmacologic agent. C3408 Thrombocytopenia C99147 Neonatal Research Network Terminology C C81282 Dubowitz Score Dubowitz Score The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to determine an infant's gestational age and maturity. C118807 C99147 Neonatal Research Network Terminology 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. A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs at the same time as the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology C C3002 Edema Edema Accumulation of an excessive amount of fluid in cells or intercellular tissues. Accumulation of an excessive amount of fluid in cells or intercellular tissues. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C35435 Enlarging Abdomen Enlarged Abdomen Increasing girth of the mid section of an individual. C92720 C99147 Neonatal Research Network Terminology C C9224 Esophagitis Esophagitis An acute or chronic inflammatory process affecting the esophageal wall. Inflammation of the esophagus as confirmed by histology. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C34599 Excoriation Excoriation Excoriation of Skin Self-inflicted tearing or wearing off of skin. Self-inflicted tearing or wearing off of skin. C36281 Integumentary System Finding C100104 Sign or Symptom C99147 Neonatal Research Network Terminology 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. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve. C26733 Cranial Nerve Disorder C99147 Neonatal Research Network Terminology C C84713 Fetal Alcohol Syndrome Fetal Alcohol Syndrome A teratogenic disorder observed in a newborn or child of a mother who consumed alcohol during pregnancy. Manifestations of the syndrome include low birth weight, atypical facies, microcephaly, failure to thrive, developmental defects, organ dysfunction, mental deficiencies, poor motor coordination and behavioral problems. A teratogenic disorder observed in a newborn or child of a mother who consumed alcohol during pregnancy. Manifestations of the syndrome include low birth weight, atypical facies, microcephaly, failure to thrive, developmental defects, organ dysfunction, mental deficiencies, poor motor coordination and behavioral problems. C92780 Fetal Alcohol Spectrum Disorder C99147 Neonatal Research Network Terminology C C92782 Fetal Bradycardia Fetal Bradycardia A fetal heart rate below 110 bpm that is sustained for longer than 10 minutes. A fetal heart rate below 110 bpm that is sustained for longer than 10 minutes. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology 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. A test for the presence of fetal fibronectin in the cervico-vaginal area that is used to predict preterm birth. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C C92711 Fetal Finding Fetal Finding Any intrauterine symptom or result related to the fetus. C3367 Finding 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. 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. A decrease from the baseline fetal heart rate that has a duration of less than 10 minutes. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology 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. The act of observing and recording the fetal heart rate for determining the baseline values or other abnormal findings. C90341 Pediatric Intervention or Procedure C99147 Neonatal Research Network Terminology C C92716 Fetal Heart Rate Fetal Heart Rate The number of fetal cardiac beats per minute. The number of fetal cardiac beats per minute. C49677 Heart Rate C99147 Neonatal Research Network Terminology C C92790 Fetal Heart Rate Variability Fetal Heart Rate Variability Fluctuations in the baseline fetal heart rate, determined in a 10 minute window while excluding accelerations and decelerations. They are irregular in amplitude and frequency and are visually quantitated as the amplitude of the peak to trough in beats per minute. Sinusoidal patterns are also excluded. Fluctuations in the baseline fetal heart rate, determined in a 10 minute window while excluding accelerations and decelerations. They are irregular in amplitude and frequency and are visually quantitated as the amplitude of the peak to trough in beats per minute. Sinusoidal patterns are also excluded. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C C98926 Fetal Heart Rhythm Fetal Heart Rhythm The recurrent, measured movements (rhythm) of a beating heart in a fetus. The recurrent, measured movements (rhythm) of a beating heart in a fetus. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C C92791 Fetal Heart Tone Fetal Heart Tone The sounds of the fetal heart. Auscultated fetal heart sounds. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C C92792 Fetal Heart Tone Location Fetal Heart Tone Location The site of fetal cardiac sounds that can be distinctly detected in relation to the maternal abdomen. The site of fetal heart sounds in relation to the maternal abdomen. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C C98927 Fetal Hydantoin Syndrome Fetal Hydantoin Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development. A teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98928 Fetal Methotrexate Syndrome Fetal Methotrexate Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to methotrexate during pregnancy. Manifestations of the syndrome include craniofacial, digital, and skeletal malformations. A teratogenic disorder observed in a newborn or child of a mother who was exposed to methotrexate during pregnancy. Manifestations of the syndrome include craniofacial, digital, and skeletal malformations. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C92794 Fetal Pulse Oximetry Fetal Pulse Oximetry A method to assess fetal oxygenation status during labor and delivery using a noninvasive reflectance pulse oximeter. C90341 Pediatric Intervention or Procedure C99147 Neonatal Research Network Terminology 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. 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 C92796 Fetal Tachycardia Fetal Tachycardia A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. C92715 Fetal Heart Finding C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98930 Fetal Valproate Syndrome Fetal Valproate Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to valproic acid during pregnancy. Manifestations include musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features. A teratogenic disorder observed in a newborn or child of a mother who was exposed to valproic acid during pregnancy. Manifestations include musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98906 Fetal Warfarin Syndrome Fetal Warfarin Syndrome Fetal Coumadin Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology 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. C9305 Cancer|Malignant Neoplasm C9118 Sarcoma 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. 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. A broken clavicle sustained during the birthing process. 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. A breakage in any of the elongated bones of the extremities sustained during the birthing process. C3046 Fracture C101035 Birth Injury|Neonatal Injury Related to Birth C99147 Neonatal Research Network Terminology 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. A broken skull bone sustained during the birthing process. C101035 Birth Injury|Neonatal Injury Related to Birth C50745 Skull Fracture C99147 Neonatal Research Network Terminology 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 C3101 Genetic 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. C3101 Genetic 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. C3101 Genetic Disorder C61250 Lysosomal Storage 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. Reflux of stomach contents with symptoms and/or complications from the reflux act. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C48592 Gastrointestinal Hemorrhage Gastrointestinal Hemorrhage Bleeding originating from any part of the gastrointestinal tract. Hemorrhage originating at any site located within the gastrointestinal tract. C3368 Gastrointestinal System Signs and Symptoms C26791 Hemorrhage C99147 Neonatal Research Network Terminology 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. C97092 Lipid Metabolism Disorder 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. Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology 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. 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. C26767 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. C9305 Cancer|Malignant Neoplasm 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 C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C C81255 Head Circumference Head Circumference A circumferential measurement of the head at the widest point, which is traditionally above the eyebrows. The widest measurement of the head, when it is measured at its occipitofrontal circumference. C25334 Length C99147 Neonatal Research Network Terminology C C49677 Heart Rate Heart Rate The number of heartbeats per unit of time, usually expressed as beats per minute. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C C81309 Heart Rate Score Heart Rate Score A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology 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. 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 C3085 Hemangioma Hemangioma A benign vascular neoplasm characterized by the formation of capillary-sized or cavernous vascular channels. A benign, vascular neoplasm characterized by the formation of capillary-sized vascular channels. C3262 Neoplasm C99147 Neonatal Research Network Terminology C C98936 Hematochezia Hematochezia The passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage. The presence of fresh blood mixed in the fecal matter; usually as a result of lower gastrointestinal tract hemorrhage. C48592 Gastrointestinal Bleed|Gastrointestinal Hemorrhage C99147 Neonatal Research Network Terminology 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|Congenital Malformation C99147 Neonatal Research Network Terminology C C26791 Hemorrhage Hemorrhage The flow of blood from a ruptured blood vessel. Loss of blood. C2931 Cardiovascular Disorder 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. A substantial decrease in the platelet count associated with heparin therapy. C99110 Drug Induced Thrombocytopenia|Drug-Induced Thrombocytopenia 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. A malignant neoplasm of embryonal origin arising within the liver C9305 Cancer|Malignant 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 C3101 Genetic 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|Congenital Malformation 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. 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. C3101 Genetic 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. 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. C3101 Genetic 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. C3101 Genetic Disorder C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C C117273 Heterotaxy Syndrome Heterotaxy Syndrome Heterotaxia Syndrome A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. C36287 C99147 Neonatal Research Network Terminology 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. An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology 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 C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75387 Human Chorionic Gonadotropin Measurement Human Chorionic Gonadotropin Measurement A laboratory test to detect the amount of human chorionic gonadotropin in a biospecimen. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C C3111 Hydrocephalus Hydrocephalus A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. Abnormal increase of cerebrospinal fluid in the ventricles of the brain.|An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain. C96413 Brain Disorder C99147 Neonatal Research Network Terminology C C84767 Hydrops Fetalis Hydrops Fetalis A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C27088 Hyperbilirubinemia Hyperbilirubinemia Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. Abnormally high level of bilirubin in the blood. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C37968 Hyperkalemia Hyperkalemia Higher than normal levels of potassium in the circulating blood; associated with kidney failure or sometimes with the use of diuretic drugs. Abnormally high level of potassium in the blood. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C C37969 Hypermagnesemia Hypermagnesemia Higher than normal levels of magnesium in the circulating blood. Abnormally high level of magnesium in the blood. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C C48259 Hyperparathyroidism Hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. Overproduction of parathyroid hormone. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C C3123 Hyperthyroidism Hyperthyroidism Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. Overproduction of thyroid hormone. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C C98952 Hypertrophic Pyloric Stenosis Hypertrophic Pyloric Stenosis An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. Narrowing of the pyloric channel, the opening from the stomach to the duodenum, caused by enlargement and thickening of the circular muscular layer surrounding this opening. C34966 Pyloric Stenosis C99147 Neonatal Research Network Terminology C C37973 Hypocalcemia Hypocalcemia Lower than normal levels of calcium in the circulating blood. Abnormally low level of calcium in the blood.|Hypocalcaemia is an electrolyte disturbance in which the serum calcium levels in the blood are low (less than 2.1 mmol/L). C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C C37975 Hypomagnesemia Hypomagnesemia Lower than normal levels of magnesium in the circulating blood. Abnormally low level of magnesium in the blood.|Hypomagnesemia is an electrolyte disturbance in which there is an abnormally low level of magnesium in the blood (less than 0.7 mmol/L) C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C C37976 Hyponatremia Hyponatremia Lower than normal levels of sodium in the circulating blood. Abnormally low level of sodium in the blood.|Hyponatremia is an electrolyte disturbance in which the sodium concentration in the serum is lower than normal. Sodium homeostasis is vital to the normal physiologic function of cells. Hyponatremia is defined as a serum level of less than 135 mEq/L and is considered severe when the serum level is below 125 mEq/L. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C C78350 Hypoparathyroidism Hypoparathyroidism An endocrine disorder characterized by decreased production of parathyroid hormone by the parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails, cataracts, tetany, and convulsions. Abnormally low levels of parathyroid hormone. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C C3128 Hypotension Hypotension Low Blood Pressure Blood pressure that is abnormally low. Abnormally low blood pressure, which is usually symptomatic. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C C26800 Hypothyroidism Hypothyroidism Abnormally low levels of thyroid hormone. Abnormally low levels of thyroid hormone. C3009 Endocrine System Disorder 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. A condition characterized by decreased resistance to passive stretching and diminished muscle activity.|Abnormally low muscle tone. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C3890 Hypoxia Hypoxia A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). A condition in which there is low oxygen in the tissues. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C C35549 Hypoxic Ischemic Encephalopathy Hypoxic Ischemic Encephalopathy HIE Ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures. Injury to the central nervous system that occurs when there is insufficient delivery of oxygen to all or part of the brain. C26920 Encephalopathy C99147 Neonatal Research Network Terminology C C99117 Immature Retinal Vasculature in Zone 1 Immature Retinal Vasculature in Zone 1 A finding that indicates the presence of immature retinal vessels in zone 1 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 1, a circle that is centered on the optic nerve and extends peripherally twice the distance from the center of the optic disc to the center of the macula.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone I is a circle, the radius of which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. C99115 Immature Retinal Vasculature C99147 Neonatal Research Network Terminology C C99118 Immature Retinal Vasculature in Zone 2 Immature Retinal Vasculature in Zone 2 A finding that indicates the presence of immature retinal vessels in zone 2 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 2, a circle surrounding zone 1 and extending peripherally to the nasal ora serrata.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone II extends centrifugally from the edge of zone I to the nasal ora serrata. C99115 Immature Retinal Vasculature C99147 Neonatal Research Network Terminology C C99119 Immature Retinal Vasculature in Zone 3 Immature Retinal Vasculature in Zone 3 A finding that indicates the presence of immature retinal vessels in zone 3 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 3, the residual temporal crescent of retina anterior to zone 2.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone III is the residual crescent of retina anterior to zone II. C99115 Immature Retinal Vasculature C99147 Neonatal Research Network Terminology 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 can result in disorganized and abnormal growth of retinal blood vessels, which may lead to scarring and retinal detachment.|Retinopathy of prematurity occurs in premature infants who are born before the retinal vessels complete their normal growth. It results in disorganized growth of retinal blood vessels, which may lead to scarring and retinal detachment. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology 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. Failing to gain weight as expected demonstrated by not following a normative growth curve, or significant decrease in weight percentile over time. C89330 Developmental Disorder C99147 Neonatal Research Network Terminology C C34690 Inguinal Hernia Inguinal Hernia The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. The protrusion of the contents of the abdominal cavity into the inguinal canal. C34685 Hernia C99147 Neonatal Research Network Terminology 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. C3367 Finding 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. Fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology 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. C89505 Prenatal and Pediatric Terminology 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. 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. 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 C98964 Isovaleric Acidemia Isovaleric Acidemia Isovaleryl-CoA Dehydrogenase Deficiency A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma. C3101 Genetic Disorder C101334 Organic Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C C3143 Jaundice Jaundice Yellow pigmentation of the skin, mucous membranes, and the eyes due to hyperbilirubinemia. Causes include liver disease, biliary tract obstruction, and hemolysis. Yellowish pigmentation of the skin, mucous membranes, and the eyes. C3368 Gastrointestinal System Signs and Symptoms C36281 Integumentary System Finding C99147 Neonatal Research Network Terminology C C25215 Karyotype Karyotype The assessment of the chromosomal morphology and number in somatic cells of an individual. The assessment of the chromosomal morphology and number in somatic cells of an individual. C15709 Genetic Testing C99147 Neonatal Research Network Terminology C C84799 Kernicterus Kernicterus Bilirubin Encephalopathy A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin. A condition characterized by sensorineural hearing impairment, choreoathetoid movements, paralysis of upward gaze and hypoplasia of dental enamel due bilirubin deposition in the grey matter of the central nervous system as a consequence of increased levels of unconjugated bilirubin in the serum.|Neonatal encephalopathy associated with excessive accumulation of bilirubin in the brain. C26920 Encephalopathy C99147 Neonatal Research Network Terminology 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. A type of kernicterus due to increased levels of unconjugated bilirubin in the serum as a consequence of the destruction of red blood cells initiated by the transmission of antibodies from a mother to the child via the placenta against any blood group antigen. C26920 Encephalopathy C99147 Neonatal Research Network Terminology C C34197 Lanugo Lanugo Fine downy hair that covers the body of a human fetus beginning in the fifth month of gestation; it is usually shed by the ninth month of gestation. C32221 Body Part C99147 Neonatal Research Network Terminology C C98971 Laryngomalacia Laryngomalacia Increased collapsibility of the larynx. An abnormality characterized by softening of the laryngeal cartilage typically presenting with stridor.|Increased collapsibility of the larynx. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology 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. A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs after the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology 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. A cancer of the blood or bone marrow that is characterized by increased production of abnormal blood cells. C35370 Bone Marrow Neoplasm C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C C35524 Leukocytosis Leukocytosis A laboratory test result indicating an increased number of white blood cells in the peripheral blood. Abnormally high level of white blood cells in the blood. C36292 Laboratory Test Result C99147 Neonatal Research Network Terminology 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. A brain malformation characterized by smooth folds and grooves in the brain. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C34786 Long QT Syndrome Long QT Syndrome A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death. A syndrome characterized by a propensity to develop life-threatening arrhythmias usually in the context of a prolonged corrected QT interval. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C C116994 Lupus Anticoagulant Disorder Lupus Anticoagulant Disorder A hypercoaguable state that results from the presence of the immunoglobulin known as Lupus Anticoagulant. The antibody interacts with cell membrane phospholipids, causing increased aggregation and adhesion of platelets, which causes increased clot formation. Though the majority of patients who test positive for lupus anticoagulant do not have lupus, those individuals afflicted with lupus have a higher probability of developing the antibody. C2889 Autoimmune Disease C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology 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. A syndrome usually characterized by diarrhea resulting from the inadequate absorption of macronutrients in the small intestine. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology 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. Uncontrolled growth of abnormal cells with potential for metastatic spread. 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. C3101 Genetic 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. C3101 Genetic 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. C3101 Genetic Disorder C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C C78743 Meconium Meconium The newborn's first intestinal discharge. It is a dark-green, thick substance composed of mucus, intestinal secretions, hair, and intestinal mucosa cells. C13236 Body Fluid or Substance C99147 Neonatal Research Network Terminology 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. Aspiration of meconium around the time of delivery resulting in severe respiratory distress. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C102977 Meconium Peritonitis Meconium Peritonitis Inflammation of the peritoneum caused by an intrauterine intestinal perforation leading to presence of meconium within the fetal peritoneal cavity. This is frequently seen as intra-abdominal calcifications on imaging. Inflammation of the peritoneum caused by an intrauterine intestinal perforation leading to presence of meconium within the fetal peritoneal cavity. This is frequently seen as intra-abdominal calcifications on imaging. C26726 Infectious Disease C99147 Neonatal Research Network Terminology 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. A transient disorder of the newborn colon characterized by the delayed passage of meconium and intestinal dilatation. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology 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. C3492 Enzyme Deficiency C3101 Genetic Disorder 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. A rapidly progressive cancer of the brain that originates in the cerebellum. C9305 Cancer|Malignant 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. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C26828 Meningitis Meningitis A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. Inflammation of the membranes surrounding the brain and spinal cord. C27582 Central Nervous System Infectious Disease C99147 Neonatal Research Network Terminology 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. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98989 Microphthalmos Microphthalmos A congenital abnormality characterized by the presence of an abnormally small eye globe. C2849 Congenital Abnormality|Congenital Malformation C99147 Neonatal Research Network Terminology C C81311 Moro Reflex Moro Reflex An involuntary, primal response in the neonate to loud noise or the feeling of falling. The response is characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and involuntarily flexing the fingers and toes. An involuntary response in the neonate to the feeling of falling or a loud noise characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and flexion of the fingers and toes, that disappears by 4-6 months of age. C81181 Infant Reflex C99147 Neonatal Research Network Terminology C C81312 Muscle Tone Score Muscle Tone Score A component of the Apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion. A component of the Apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion. C118807 C99147 Neonatal Research Network Terminology C C101201 Myelomeningocele Myelomeningocele A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. Incomplete closure of the spinal column during central nervous system development with protrusion of a hernial cyst containing meninges, spinal cord, or both. C101214 Spina Bifida C99147 Neonatal Research Network Terminology 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. Necrosis of the myocardium, as a result of interruption of the blood supply to the area. C3079 Heart Disorder C25738 Infarct C99147 Neonatal Research Network Terminology 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. A disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis.|A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Pneumatosis intestinalis is commonly seen on imaging. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology 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. 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 C101028 Neonatal Aspiration of Amniotic Fluid Neonatal Aspiration of Amniotic Fluid Inhalation of fluid from the amniotic sac into the lungs by the neonate. Aspiration of amniotic fluid around the time of delivery resulting in severe respiratory distress. C98996 Neonatal Disorder C83507 Aspiration|Respiratory Tract Aspiration C99147 Neonatal Research Network Terminology C C99248 Neonatal Diabetes Mellitus Neonatal Diabetes Mellitus Hyperglycemia in the newborn due to a defect in the secretion or function of insulin. Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin. C3009 Endocrine System Disorder C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C98996 Neonatal Disorder Neonatal Disorder A non-neoplastic or neoplastic disorder which occurs during the neonatal period. An abnormal condition that occurs during the 28 days following birth. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology 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. 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. A broad category of conditions causing inflammation of the liver, usually presenting during the first month of life. C2990 Gastrointestinal Disorder C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C99235 Neonatal Hyperbilirubinemia Neonatal Hyperbilirubinemia Increased levels of bilirubin in the blood during the neonatal period. In the majority of cases it is seen in the first week of life and usually there is no underlying disease, however, it may also occur in hemolytic diseases, infections, metabolic disorders, and liver abnormalities. Increased levels of bilirubin in the blood during the first 28 days of life, which may be due to a pathologic or non-pathologic cause. C27088 Hyperbilirubinemia C99147 Neonatal Research Network Terminology C C99231 Neonatal Infectious Disorder Neonatal Infectious Disorder An infectious disorder that occurs during the neonatal period. Representative examples include streptococcal infection, E.coli infection, and bacterial meningitis. A disorder in a newborn infant up to 28 days old resulting from the presence and activity of a bacterial, fungal, viral, or parasitic agent. It can transmitted antenatally, perinatally or postnatally. C26726 Infectious Disease C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C101035 Neonatal Injury Related to Birth Neonatal Injury Related to Birth An injury sustained to a neonate during the birthing process. Injury to a newborn incurred during labor and delivery. C3671 Injury C99147 Neonatal Research Network Terminology C C99246 Neonatal Jaundice Neonatal Jaundice Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. Yellow coloring of skin, mucous membranes and eyes due to hyperbilirubinemia that appears during the first 28 days of life. C3143 Jaundice C99147 Neonatal Research Network Terminology 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. 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 C99233 Neonatal Rickets Neonatal Rickets Osteopenia of Prematurity Rickets that usually affects premature infants. Factors that contribute to the development of neonatal rickets include calcium, phosphorus, or calciferol deficiency. It manifests with spontaneous fractures, respiratory distress, and growth developmental delays. A condition affecting premature infants characterized by decreased bone mineral content relative to the expected level of mineralization for an infant of comparable postmenstrual age. C98996 Neonatal Disorder C26878 Rickets C99147 Neonatal Research Network Terminology 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. 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 C40407 Nephroblastoma Nephroblastoma An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology 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. A malignant neoplasm comprised of neuroblasts that commonly arises in or near the adrenal glands. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C C89516 Neuromuscular Maturity Assessment Neuromuscular Maturity Assessment A neuromuscular examination of a newborn's developmental characteristics. A neuromuscular examination of a newborn's developmental characteristics to confirm or assign gestational age. C84749 Newborn Examination C99147 Neonatal Research Network Terminology 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. A developmental brain abnormality characterized by abnormal migration of neurons during cortical development. C96412 Brain Development Abnormality C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C81270 Newborn Motor Scale Newborn Motor Scale A range of values used to quantify newborn motor development. C118807 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. C3101 Genetic Disorder C97092 Lipid Metabolism Disorder 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. C3101 Genetic 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. C36280 C99147 Neonatal Research Network Terminology C C99000 Orbital Cellulitis Orbital Cellulitis Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. An infection of the orbital tissue, posterior to the orbital septum. C26715 Cellulitis C99147 Neonatal Research Network Terminology C C3300 Ovarian Cyst Ovarian Cyst A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods. C2978 Cyst C36284 C99147 Neonatal Research Network Terminology C C50685 Pallor Pallor An unusual or extreme paleness, state of decreased skin or mucosal coloration. A condition characterized by an abnormal loss of color to the skin or mucous membranes due to reduced delivery of saturated hemoglobin.|An unusual or extreme paleness; state of decreased skin or mucosal color. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C110940 Panhypopituitarism Panhypopituitarism Insufficient production of all the anterior pituitary hormones. Insufficient production of the anterior pituitary hormones. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology 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. Diminished bile flow from the liver into the duodenum as a result of prolonged parenteral nutrition or total parenteral nutrition. C83006 Cholestasis C99147 Neonatal Research Network Terminology C C3319 Pericardial Effusion Pericardial Effusion Fluid collection within the pericardial sac, usually due to inflammation. Fluid collection within the pericardial sac. C3079 Heart Disorder C101327 Pericardial Anomaly C99147 Neonatal Research Network Terminology C C99261 Perinatal Intracranial Hemorrhage Perinatal Intracranial Hemorrhage Bleeding within the skull of a newborn infant occurring around the time of birth. Bleeding within the skull of a newborn infant occurring around the time of birth. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C35095 Perinatal Disorder C99147 Neonatal Research Network Terminology C C101324 Perinatal Intraventricular Hemorrhage Perinatal Intraventricular Hemorrhage Bleeding within the cerebral ventricles occurring around the time of birth. Bleeding within the cerebral ventricles occurring around the time of birth. C50896 Intraventricular Hemorrhage C99261 Perinatal Intracranial Hemorrhage C99147 Neonatal Research Network Terminology 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. Yellow pigmentation of the skin, mucous membranes and sclerae due to hyperbilirubinemia associated with intraluminal bile plugs, sludge or gallstones in the newborn infant. C3143 Jaundice C99147 Neonatal Research Network Terminology 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. A hemorrhage that involves the subependymal region, the lateral cerebral ventricles and the brain tissue occurring around the time of birth. C117201 Perinatal Subependymal Hemorrhage C99147 Neonatal Research Network Terminology C C99013 Periventricular Leukomalacia Periventricular Leukomalacia Necrosis and softening of the white matter around the ventricles in the brain. It is usually seen in preterm infants and caused by lack of blood flow and oxygenation in the periventricular brain parenchyma. A form of cerebral white matter injury usually seen in preterm infants that is characterized by necrotic degeneration or gliosis of white matter adjacent to the cerebral ventricles, that may evolve into focal cysts.|Necrosis of brain tissue around the cerebral ventricles of neonates, most commonly seen in preterm infants. C98920 Encephalomalacia C99147 Neonatal Research Network Terminology 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. 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 C99015 Phosphoenolpyruvate Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase (GTP) Deficiency A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C99017 Phrenic Nerve Palsy Phrenic Nerve Palsy Intermittent, incomplete or complete paralysis with or without tremors to any of the organs or body parts innervated by the phrenic nerve. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C110927 Physiologic Hyperbilirubinemia Physiological Hyperbilirubinemia Elevated bilirubin levels in the blood of a newborn infant. It is a normal response due to the limited ability to excrete bilirubin until the maturation of the neonatal liver is complete. Non-pathologic rise in bilirubin levels in the blood of a newborn infant, typically occurring within the first week of life, due to the limited ability to conjugate and excrete bilirubin. C99235 Neonatal Hyperbilirubinemia C99147 Neonatal Research Network Terminology C C3331 Pleural Effusion Pleural Effusion Increased amounts of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma. An accumulation of fluid in the pleural cavity. C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C C99012 Pneumoperitoneum Pneumoperitoneum Free air within the peritoneal cavity. Free air within the peritoneal cavity. C3368 Gastrointestinal System Signs and Symptoms C99147 Neonatal Research Network Terminology C C38006 Pneumothorax Pneumothorax Abnormal presence of air in the pleural cavity. A collection of air or other gas between the visceral and parietal pleura. C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology 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) C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C C99020 Porencephalic Cyst Porencephalic Cyst A congenital or acquired cystic cavity within the cerebral hemisphere. Cystic area of encephalomalacia that is the end result of a destructive process such as intraparenchymal hemorrhage, infection or trauma. C2978 Cyst C99147 Neonatal Research Network Terminology 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. Increased blood pressure in the portal venous system which manifests as ascites, splenomegaly and/or varices. C3368 Gastrointestinal System Signs and Symptoms C3117 Hypertension C99147 Neonatal Research Network Terminology C C99024 Premature Closure of the Ductus Arteriosus Premature Closure of the Ductus Arteriosus Closure of the ductus arteriosus prior to birth. Closure of the ductus arteriosus prior to birth. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C C92863 Prolonged Acceleration Prolonged Acceleration Prolonged Fetal Heart Rate Acceleration A fetal heart rate acceleration that lasts 2 to less than 10 minutes. A fetal heart rate acceleration that lasts 2 to 10 minutes.|A fetal heart rate acceleration that lasts 2 to less than 10 minutes. C92788 Fetal Heart Acceleration|Fetal Heart Rate Acceleration C99147 Neonatal Research Network Terminology 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. A decrease in the fetal heart rate below baseline lasting 2 to 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute.|A decrease in the fetal heart rate below baseline lasting 2 to less than 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology 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. C3101 Genetic Disorder C101334 Organic Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C C50711 Pseudoaneurysm Pseudoaneurysm The creation of hematoma outside the arterial wall following bleeding due to puncture of the arterial wall. Pseudoaneurysms can also occur in the heart chambers following myocardial infarction and bleeding. C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C C50713 Pulmonary Embolism Pulmonary Embolism The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. The obstruction of blood flow by an embolus within the pulmonary circulation. C26759 Embolism C99147 Neonatal Research Network Terminology C C3120 Pulmonary Hypertension Pulmonary Hypertension Increased pressure within the pulmonary circulation due to lung or heart disorder. Elevated pulmonary vascular pressure. C3117 Hypertension C99147 Neonatal Research Network Terminology C C49676 Pulse Rate Pulse Rate The rate of the pulse as observed in an artery, expressed as beats per minute. It can be measured at several anatomical sites, including the wrist, neck, temple, groin, behind the knees, or on top of the foot. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology 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. C36280 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. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring. C2990 Gastrointestinal Disorder 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. Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. Applies to early, late or variable decelerations.|Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology 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. Paralysis of the recurrent laryngeal nerve. C26733 Cranial Nerve Disorder C103171 Recurrent Laryngeal Nerve Injury 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. An optic examination in which an ophthalmoscope or retinoscope is placed in front of the eye to determine whether a circular reddish hue is visible. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C C78342 Reflex Reflex Reflex Finding|Reflex Observable An automatic instinctive unlearned reaction to a stimulus. C36280 C99147 Neonatal Research Network Terminology C C81319 Reflex Irritability Score Reflex Irritability Score A component of the Apgar score, it is the numerical value assigned to the neonate's response to stimuli, such as a mild pinch. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry. A component of the Apgar score, it is the numerical value assigned to the neonate's response to tactile stimuli. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry. C118807 C99147 Neonatal Research Network Terminology C C28129 Renal Tubular Acidosis Renal Tubular Acidosis Failure of the renal tubules of the kidney to excrete urine of normal acidity resulting in metabolic acidosis. It may lead to hypercalcinuria, nephrolithiasis, and renal failure. Causes include autoimmune disorders (e.g., Sjogren syndrome, systemic lupus erythematosus, and rheumatoid arthritis), medications (e.g., non steroidal anti-inflammatory drugs, diuretics, and blood pressure medications), Fanconi syndrome, or it may be familiar. Hyperchloremic metabolic acidosis caused by failure of the kidney to excrete non-volatile acid or reabsorb filtered bicarbonate associated with a normal or near normal glomerular filtration rate. C27120 Electrolyte Disorder C3149 Kidney Disease C99147 Neonatal Research Network Terminology C C99042 Renal Vein Thrombosis Renal Vein Thrombosis The formation of a blood clot (thrombus) in the renal vein. A blood clot in the renal vein. C99107 Venous Thrombosis C99147 Neonatal Research Network Terminology C C26872 Respiratory Failure Respiratory Failure The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. The significant impairment of gas exchange resulting in hypoxia and/or hypercarbia, to the extent that tissue oxygenation is severely compromised. C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C C49678 Respiratory Rate Respiratory Rate The rate of breathing (inhalation and exhalation) measured within in a unit time, usually expressed as breaths per minute. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C C83507 Respiratory Tract Aspiration Respiratory Tract Aspiration Accidental inhalation of a foreign material into the lungs. The entry of foreign material past the larynx, and into the lower respiratory tract. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology 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. A malignant tumor of the eye comprised of immature retinal cells. C9305 Cancer|Malignant 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. A vasoproliferative condition of very immature newborn infants that may be characterized by non-vascularized retina leading to neovascularization, scarring, retinal detachment, and eventually blindness. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C99044 Retinopathy of Prematurity in Zone 1 Retinopathy of Prematurity in Zone 1 Retinopathy of prematurity located in zone 1 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 1, a circle that is centered on the optic nerve and extends peripherally twice the distance from the center of the optic disc to the center of the macula. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99045 Retinopathy of Prematurity in Zone 2 Retinopathy of Prematurity in Zone 2 Retinopathy of prematurity located in zone 2 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 2, a circle surrounding zone 1 and extending peripherally to the nasal ora serrata. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99046 Retinopathy of Prematurity in Zone 3 Retinopathy of Prematurity in Zone 3 Retinopathy of prematurity located in zone 3 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 3, the residual temporal crescent of retina anterior to zone 2. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99047 Retinopathy of Prematurity Stage 1 Demarcation Line Retinopathy of Prematurity Stage 1 - Demarcation Line An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of a faint demarcation line. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 1 is defined by a demarcation line, a thin but definite structure that separates the avascular retina anteriorly from the vascularized retina posteriorly. There is abnormal branching or arcading of vessels leading up to the demarcation line that is relatively flat, white, and lies within the plane of the retina.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 1: Demarcation Line is a thin but definite structure that separates the avascular retina anteriorly from the vascularized retina posteriorly. There is abnormal branching or arcading of vessels leading up to the demarcation line that is relatively flat, white, and lies within the plane of the retina. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99048 Retinopathy of Prematurity Stage 2 Intraretinal Ridge Retinopathy of Prematurity Stage 2 - Intraretinal Ridge An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of an elevated ridge. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 2 is defined by an intraretinal ridge, the ridge arises from the demarcation line and has height and width, which extends above the plane of the retina. The ridge may change from white to pink and vessels may leave the plane of the retina posterior to the ridge to enter it.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 2: Intraretinal Ridge, the ridge arises from the demarcation line and has height and width, which extends above the plane of the retina. The ridge may change from white to pink and vessels may leave the plane of the retina posterior to the ridge to enter it. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99049 Retinopathy of Prematurity Stage 3 Ridge with Extraretinal Fibroblastic Proliferation Retinopathy of Prematurity Stage 3 - Ridge with Extraretinal Fibrovascular Proliferation An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of extraretinal fibrovascular tissue. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 3 is defined by a ridge with extraretinal fibrovascular proliferation, the neovascularization extends from the ridge into the vitreous. This extraretinal proliferating tissue is continuous with the posterior aspect of the ridge, causing a ragged appearance as the proliferation becomes more extensive.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 3: Ridge with extraretinal fibrovascular proliferation, the neovascularization extends from the ridge into the vitreous. This extraretinal proliferating tissue is continuous with the posterior aspect of the ridge, causing a ragged appearance as the proliferation becomes more extensive. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99050 Retinopathy of Prematurity Stage 4 Subtotal Retinal Detachment Retinopathy of Prematurity Stage 4 - Subtotal Retinal Detachment An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of subtotal retinal detachment. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 4 is defined by subtotal retinal detachment. The retinal detachments are generally concave and most are circumferentially oriented. Retinal detachments usually begin at the point of fibrovascular attachment to the vascularized retina and the extent of detachment depends on the amount of neovascularization present. Stage 4A is defined by retinal detachment which spares the macula. Stage 4B is defined by retinal detachment involving the macula.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 4: Subtotal Retinal Detachment the retinal detachments are generally concave and most are circumferentially oriented. Retinal detachments usually begin at the point of fibrovascular attachment to the vascularized retina and the extent of detachment depends on the amount of neovascularization present. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99051 Retinopathy of Prematurity Stage 5 Total Retinal Detachment Retinopathy of Prematurity Stage 5 - Total Retinal Detachment An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of total retinal detachment. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 5 is defined by total retinal detachment. The retinal detachments are generally tractional and usually funnel shaped. The configuration of the funnel itself is used for subdivision of this stage depending if the anterior and posterior portions are open or narrowed.|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 5: Total Retinal Detachment, the retinal detachments are generally tractional and usually funnel shaped. The configuration of the funnel itself is used for subdivision of this stage depending if the anterior and posterior portions are open or narrowed. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C101036 Retinopathy of Prematurity with Plus Disease Retinopathy of Prematurity with Plus Disease A stage of retinopathy of prematurity characterized by the presence of the following in at least two quadrants around the optic nerve: dilation and tortuosity of major retinal vasculature as a result of increased blood flow. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. Plus disease is characterized by at least two quadrants around the optic nerve showing evidence of dilation and tortuosity of the major retinal vessels resulting from increased blood flow or neovascularization of the iris or poor view of the retina due to vitreous haze. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology 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. C25294 Laboratory Procedure 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. A malignant neoplasm arising from skeletal myocytes. C9305 Cancer|Malignant Neoplasm C9118 Sarcoma C99147 Neonatal Research Network Terminology C C26878 Rickets Rickets Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. Reduced bone density in children secondary to a deficiency or defective metabolism of vitamin D, calcium, or phosphorus. C26836 Nutritional Disorder C99147 Neonatal Research Network Terminology 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. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C C87118 Sacral Dimple Sacral Dimple A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area. A blind-ending, epithelial-lined tract that is located 5-25 mm from the anal verge. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology 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. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C C2962 Seizure Seizure Sudden, involuntary skeletal muscular contractions of cerebral or brain stem origin. A paroxysmal surge of electrical activity in the brain that may result in physical or behavioral changes. C87124 Central Nervous System Signs and Symptoms C99147 Neonatal Research Network Terminology 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. A neurological disorder characterized by recurring seizures. 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. A systemic inflammatory response to an infection.|Clinical syndrome defined by the presence of both infection and a systemic inflammatory response. C2890 Bacterial Disease C99147 Neonatal Research Network Terminology C C35016 Shock Shock A life-threatening condition that requires immediate medical intervention. It is characterized by reduced blood flow that may result in damage of multiple organs. Types of shock include cardiogenic, hemorrhagic, septic, anaphylactic, and traumatic shock. Profoundly reduced blood flow that results in impaired tissue perfusion and possible end organ damage. C2931 Cardiovascular Disorder C99147 Neonatal Research Network Terminology C C81321 Skin Color Score Skin Color Score A component of the Apgar score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = pale blue; 1 = pink body and pale blue extremities; 2 = pink body and extremities. A component of the Apgar score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = blue; 1 = pink body and blue extremities; 2 = pink body and extremities. C36281 Integumentary System Finding C99147 Neonatal Research Network Terminology C C34781 Spastic Diplegia Spastic Diplegia A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. A type of spastic cerebral palsy characterized by increased muscle tone of the lower extremities bilaterally, particularly the legs, hips, and pelvis. C34460 Cerebral Palsy C99147 Neonatal Research Network Terminology C C117254 Sphingolipidosis Sphingolipidosis An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. C3235 Metabolic Disease C99147 Neonatal Research Network Terminology 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. Ischemic necrosis of the spinal cord due to spinal artery occlusion sustained during the birthing process. C101035 Birth Injury|Neonatal Injury Related to Birth C99147 Neonatal Research Network Terminology 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. An injury to the spinal cord occurring during labor and/or delivery. Injury may include compression, partial or complete disruption of the cord. C101035 Birth Injury|Neonatal Injury Related to Birth C50750 Spinal Cord Injury C99147 Neonatal Research Network Terminology 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. C26767 C99147 Neonatal Research Network Terminology C C81323 Sucking Reflex Sucking Reflex An involuntary, primal response in the neonate when a nipple is placed on an infant's lips. An involuntary response in the neonate when a nipple is placed on an infant's lips to rhythmically suck, that disappears by 2-5 months of age. C81181 Infant Reflex C99147 Neonatal Research Network Terminology 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 C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C C99066 Supravalvular Pulmonary Artery Stenosis Supravalvular Pulmonary Artery Stenosis Pulmonary Artery Stenosis, Supravalvar Stenosis of the pulmonary artery that occurs above the valve. C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C C35061 Supraventricular Tachycardia Supraventricular Tachycardia A disorder characterized by an electrocardiographic finding of a tachycardia which does not originate in the ventricles or His Purkinje system. There is an abnormally high heart rate and QRS complexes are typically narrow, but aberration or preexcitation may be present. (CDISC) A tachycardia originating in the atria of the heart. C110938 Tachyarrhythmia C99147 Neonatal Research Network Terminology 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. A syndrome characterized by abnormally increased secretion of antidiuretic hormone. Signs and symptoms include hyponatremia and hypo-osmolality. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology 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. C36287 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. 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 C3408 Thrombocytopenia Thrombocytopenia Thrombocytopenic Disorder A condition in which there is an abnormally small number of platelets in the circulating blood. Abnormally low level of platelets in the blood. C26323 Hematologic Disorder C36292 Laboratory Test Result C99147 Neonatal Research Network Terminology C C35530 Thrombocytosis Thrombocytosis A hematology test result that indicates the presence of higher than normal platelet counts in the peripheral blood. Abnormally high level of platelets in the blood. C26323 Hematologic Disorder C36292 Laboratory Test Result C99147 Neonatal Research Network Terminology 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. Abnormally increased tendency of the blood to form clots. C2902 Coagulation Defect|Coagulopathy C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C C26891 Thrombosis Thrombosis The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. Formation of a blood clot within a blood vessel or the heart. C2931 Cardiovascular Disorder C2902 Coagulation Defect|Coagulopathy C99147 Neonatal Research Network Terminology C C81324 Tonic Neck Reflex Tonic Neck Reflex An involuntary, primal response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward. An involuntary response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward, that disappears by 4-6 months of age. C81181 Infant Reflex C99147 Neonatal Research Network Terminology 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. An infection caused by bacteria, viruses or parasites transmitted directly from the mother to an embryo, fetus or neonate during pregnancy or childbirth. Clinical manifestations may include intrauterine growth restriction; a petechial rash, jaundice, hepatosplenomegaly; chorioretinitis, intracranial calcification and other abnormalities of the brain; and congenital heart defects. C3101 Genetic Disorder C26726 Infectious Disease C99147 Neonatal Research Network Terminology C C101037 Transient Tachypnea of the Newborn Transitory Tachypnea of Newborn A respiratory disorder characterized by higher than normal respiratory rates among premature and cesarean section delivered neonates whose lungs have not fully matured. The cause is often excess fluid in the lungs, and resolution is aided by supplemental oxygen and sometimes, antibiotics. A benign, self-limited, parenchymal lung disorder characterized by pulmonary edema resulting from delayed clearance of fetal alveolar fluid. C99232 Neonatal Respiratory System Disorder C99147 Neonatal Research Network Terminology 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. Unintentional trembling or shaking of one or more body parts. C100104 Sign or Symptom 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. An infection affecting one or more parts of the urinary tract. C26726 Infectious Disease C3430 Urinary System 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. An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to less than two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minutes, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations.|An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minutes, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations. C92789 Fetal Heart Deceleration|Fetal Heart Rate Deceleration C99147 Neonatal Research Network Terminology C C98643 Venous Stenosis Venous Stenosis A finding indicating narrowing of a vein in one or multiple areas. C35117 Vascular Disorder C99147 Neonatal Research Network Terminology C C99107 Venous Thrombosis Venous Thrombosis The formation of a blood clot (thrombus) in the lumen of a vein. Partial or complete occlusion of the lumen of a vein by a thrombus. C26891 Thrombosis C99147 Neonatal Research Network Terminology C C50799 Ventricular Fibrillation Ventricular Fibrillation A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) An irregular heart rhythm, usually associated with a rapid rate, that is caused by abnormal electrical activity within the ventricles. C26924 Ventricular Arrhythmia C99147 Neonatal Research Network Terminology 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. The presence of a defect (opening) in the septum that separates the two ventricles of the heart. The VSD can be congenital or acquired. C84482 Congenital Septal Defect C99147 Neonatal Research Network Terminology C C50802 Ventricular Tachycardia Ventricular Tachycardia A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) A tachycardia originating in the ventricles of the heart. C26924 Ventricular Arrhythmia C99147 Neonatal Research Network Terminology 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. Nerve injury that results in inability to move the vocal cords. C26835 Nervous System Disorder C118420 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. C3101 Genetic 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. A high-pitched breath sound resulting from a narrowing or obstruction of the small airways. 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. C3101 Genetic 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. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology D 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 D 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 D 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 D 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