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 sequelea: loss of vision. C99208 Eye Finding 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. C99235 Neonatal Hyperbilirubinemia C99147 Neonatal Research Network Terminology C C110936 Toxic Methemoglobinemia with Cyanosis Toxic Methemoglobinemia with Cyanosis Blue skin coloration due to elevated blood levels of methemoglobin. The degree of cyanosis is directly correlated to the concentration of methemoglobin in the blood. As methemoglobin is not suitable for carrying oxygen, hypoxemia becomes a serious sequela. C98805 Acquired Methemoglobinemia C99147 Neonatal Research Network Terminology C C110937 Musculoskeletal Finding Musculoskeletal Finding Symptoms, physical examination results, and/or laboratory rest results related to the muscles and bones. C3367 Finding C99147 Neonatal Research Network Terminology C C110938 Tachyarrhythmia Tachyarrhythmia An arrhythmia with an above normal rate. Examples inlcude atrial fibrillation, ventricular tachycardia and ventricular fibrillation. Tachyarrhythmia is any disturbance of the heart rhythm in which the heart rate is abnormally increased. C2881 Cardiac Arrhythmia C99147 Neonatal Research Network Terminology C C110939 Plantar Grasp Reflex Plantar Grasp Reflex Finding C81181 Infant Reflex C99147 Neonatal Research Network Terminology C C110940 Panhypopituitarism Panhypopituitarism Hypofunctioning of both adenohypophysis (anterior pituitary) and neurohypophysis (posterior pituitary) leading to lowered endocrine secretions from both parts of the pituitary gland. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C C110941 Allantoic Cyst Allantoic Cyst An umbilical cyst that arises from allantoic tissue that did not regress during gestational development. Most cases involve a patent urachus that allows for communication to the urinary bladder. C2978 Cyst C99147 Neonatal Research Network Terminology C C110942 Congenital Anomaly of Pulmonary Veins Congenital Anomaly of Pulmonary Veins Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. C99137 Great Vessel Abnormality C99147 Neonatal Research Network Terminology C C110943 Musculoskeletal Injury Injury of Musculoskeletal System Damage to the muscles, bones and their supportive structral attachments. C3671 Traumatic Injury C99147 Neonatal Research Network Terminology C C103184 Genu Recurvatum Genu Recurvatum Hyperextension Deformity of Knee An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. C110937 Musculoskeletal Finding C99147 Neonatal Research Network Terminology C C101024 Colon Atresia Congenital Atresia of Colon A congenital malformation characterized by the absence of a normal opening in a part of the colon. C97171 Congenital Abnormality of the Digestive System C99147 Neonatal Research Network Terminology C C101025 Duodenal Atresia Congenital Atresia of Duodenum A congenital malformation characterized by the absence of a normal opening in a part of the duodenum. C98828 Atresia of Small Intestine C99147 Neonatal Research Network Terminology C C101026 Ileal Atresia Congenital Atresia of Ileum A congenital malformation characterized by the absence of a normal opening in a part of the ileum. C98828 Atresia of Small Intestine C99147 Neonatal Research Network Terminology C C101027 Jejunal Atresia Congenital Atresia of Jejunum A congenital malformation characterized by the absence of a normal opening in a part of the jejunum. C98828 Atresia of Small Intestine C99147 Neonatal Research Network Terminology C C101216 Myopathy Myopathy A non-neoplastic disorder that affects the muscles. Representative examples include muscular dystrophy, metabolic myopathies, muscular atrophies, and dermatomyositis. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C27088 Hyperbilirubinemia Hyperbilirubinemia Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. C100104 Signs or Symptoms C99147 Neonatal Research Network Terminology C C2991 Disease or Disorder Disease Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. C89505 Prenatal and Pediatric Terminology C99147 Neonatal Research Network Terminology C C3106 Histiocytic Infiltrate Histiocytosis Histiocytic Syndrome A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. C3262 Neoplasm|Neoplastic Disease C99147 Neonatal Research Network Terminology C C3359 Rhabdomyosarcoma Rhabdomyosarcoma A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. C3262 Neoplasm|Neoplastic Disease C99147 Neonatal Research Network Terminology C C34610 Polyostotic Fibrous Dysplasia Polyostotic Fibrous Dysplasia of Bone A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C34698 Hip Dislocation Dislocation of Hip Joint A congenital or traumatic abnormality in which the femoral head slips out of the acetabulum. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C35061 Supraventricular Tachycardia Supraventricular Tachycardia 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) C110938 Tachyarrhythmia C99147 Neonatal Research Network Terminology C C49286 Hematology Test Hematology Procedure Blood Test|Hematology Test A laboratory test to measure hematopoietic components and investigate hematologic disorders in a blood sample. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C C50802 Ventricular Tachycardia Ventricular Tachycardia 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) C26924 Ventricular Arrhythmia C99147 Neonatal Research Network Terminology C C6514 Skeletal Muscle Neoplasm Rhabdomyomatous Neoplasm A benign or malignant mesenchymal neoplasm arising from skeletal muscle. C3262 Neoplasm|Neoplastic Disease C99147 Neonatal Research Network Terminology C C75016 Cornelia De Lange Syndrome Cornelia De Lange Syndrome A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C81183 Amino Acid Measurement Measurement of Amino Acid The measurement of the amount of amino acids in a biologic specimen. C49286 Hematology Procedure C99147 Neonatal Research Network Terminology C C84537 Acyl-CoA Dehydrogenase, Long-Chain Deficiency Long-Chain Acyl-CoA Dehydrogenase Deficiency LCAD|Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. C3492 Specific Enzyme Deficiency C34816 Congenital Metabolic Disorder|Inborn Error of Metabolism C99147 Neonatal Research Network Terminology C C84653 Craniofacial Dysostosis Crouzon Syndrome A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C84910 Muscular Dystrophy Muscular Dystrophy A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C84913 Myotonic Disorder Myotonic Disorder An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy. C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C87101 Neonatal Abstinence Syndrome Neonatal Abstinence Syndrome NAS A constellation of signs and symptoms observable in a neonate that are consistent with maternal narcotic abuse or withdrawal while pregnant. Neonatal abstinence syndrome (NAS) is a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb. Neonatal abstinence syndrome occurs because a pregnant woman takes addictive illicit or prescription drugs such as Amphetamines, Barbiturates, Benzodiazepines (diazepam, clonazepam), Cocaine, Marijuana, Opiates/Narcotics (heroin, methadone, codeine). These and other substances pass through the placenta to the baby during pregnancy. At birth, the baby is still dependent on the drug. Because the baby is no longer getting the drug after birth, symptoms of withdrawal may occur. C101321 Drug Withdrawal Syndrome in Newborn 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 C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C92744 Blood Glucose Measurement Glucose Measurement, Blood A quantitative measurement for assessing the amount of glucose present in a blood sample. C49286 Hematology Procedure C92721 Screening or Clinical Tests during Pregnancy C99147 Neonatal Research Network Terminology C C98590 Type I Total Anomalous Pulmonary Venous Return Type I (Supracardiac) Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return, Type I (Supracardiac) Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the superior vena cava. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 1, supracardiac TAPVR, the pulmonary veins drain to the right atrium via the superior vena cava. In this type of TAPVR, the pulmonary veins come together behind the heart and then drain upwards to an abnormal vertical vein. This vein joins the innominate vein which connects to the right superior vena cava and drains to the right atrium. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C C98592 Type II Total Anomalous Pulmonary Venous Return Type II (Intracardiac) Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return, Type II (Intracardiac) Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the coronary sinus. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 2, intracardiac TAPVR, the pulmonary veins come together behind the heart and then drains to the right atrium through the coronary sinus. The coronary sinus is the vein that normally returns blood from the heart muscle itself back to the right atrium after its oxygen has been depleted. The coronary sinus drains directly into the right atrium. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C C98597 Type III Total Anomalous Pulmonary Venous Return Type III (Infradiaphragmatic/Infracardiac) Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return, Type III (Infradiaphragmatic/Infracardiac) Total anomalous pulmonary venous return in which the common pulmonary vein connects to the portal venous system through the diaphragm. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 3, infracardiac TAPVR, the pulmonary veins drain to the right atrium via the hepatic (liver) veins and inferior vena cava. In this type, the pulmonary veins join together behind the heart and then typically drain downwards, connecting to the liver's portal vein system. They then drain through the vascular bed of the liver and enter the right atrium from the hepatic veins. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C C98598 Type IV Total Anomalous Pulmonary Venous Return Type IV (Mixed) Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return, Type IV (Mixed) Total anomalous pulmonary venous return in which the right and left pulmonary arteries drain into different sites. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 4, TAPVR, the right and left pulmonary arteries drain into different sites. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C C98602 TORCH Antibody Measurement Toxoplasmosis, Other Infections, Rubella, Cytomegalovirus, and Herpes Simplex Virus (TORCH) Antibody Panel Measurement A group of blood tests used to detect antibodies to Toxoplasma gondii, rubella, cytomegalovirus, and herpes simplex virus to rule out congenital infections. A group of other infections may be tested as well, including varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. C49286 Hematology Procedure C99147 Neonatal Research Network Terminology C C98647 Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency Very Long-Chain Acyl-CoA Dehydrogenase Deficiency VLCAD|Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. C3492 Specific Enzyme Deficiency C34816 Congenital Metabolic Disorder|Inborn Error of Metabolism C99147 Neonatal Research Network Terminology C C98848 Bundle of His Tachycardia His Bundle Tachycardia Congenital His Bundle Tachycardia An electrocardiographic finding of a congenital tachycardia that affects neonates and infants. It results from an increased automaticity in the atrioventricular node and His bundle. C110938 Tachyarrhythmia C99147 Neonatal Research Network Terminology C C98972 Larynx Atresia Congenital Atresia of Larynx A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. Laryngeal atresia is a congenital failure of the laryngeal opening to develop, resulting in partial or total obstruction at or just above or below the glottis. C97173 Congenital Abnormality of the Respiratory System C99147 Neonatal Research Network Terminology C C99004 Partial Anomalous Pulmonary Venous Return Partial Anomalous Pulmonary Venous Connection A congenital heart disorder in which one or two pulmonary veins are not connected to the left atrium and drain into the right atrium instead. It may lead to arrhythmias and pulmonary hypertension. C98585 Total Anomalous Pulmonary Venous Return C99147 Neonatal Research Network Terminology C 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. C107377 Musculoskeletal System 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. C27088 Hyperbilirubinemia C99147 Neonatal Research Network Terminology C C99124 Increased Bone Density Increased Bone Density A finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and Paget disease. C110937 Musculoskeletal Finding C99147 Neonatal Research Network Terminology C C99113 Ectopic Atrial Tachycardia Ectopic Atrial Tachycardia An electrocardiographic finding of atrial tachycardia that does not originate from the sinoatrial node. C110938 Tachyarrhythmia C99147 Neonatal Research Network Terminology