A C103845 Hemoglobin Variant Measurement Hemoglobin Variant Measurement A test to measure the variants of hemoglobin. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology A C103917 Right Aortic Arch Right Aortic Arch An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. A congenital anomaly in which the aorta is displaced to the right and passes behind the esophagus, thus forming a vascular ring that may cause compression of the trachea and esophagus. C99137 Great Vessel Abnormality C99147 Neonatal Research Network Terminology A C103918 Microcystic Renal Disease Microcystic Renal Disease A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla. C3149 Kidney Disease C99147 Neonatal Research Network Terminology A C103919 Solitary Multilocular Renal Cyst Solitary Multilocular Renal Cyst A single cyst in the kidney with several compartments. C2978 Cyst C3149 Kidney Disease C99147 Neonatal Research Network Terminology A C103920 Hemobglobin Bart's Hydrops Bart's Hemoglobinopathy Hemoglobin Barts A severe and rare form of alpha thalassemia characterized by the absence of alpha globin chains. It results in hydrops fetalis, severe anemia, hepatosplenomegaly, heart defects, and genitourinary abnormalities. It leads to death in utero or shortly thereafter. C35069 Thalassemia C99147 Neonatal Research Network Terminology A C103921 Lissencephaly Lissencephaly A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms. C97172 Congenital Abnormality of the Nervous System C99147 Neonatal Research Network Terminology A C103922 Congenital Hydroureter Congenital Hydroureter Dilatation of the ureter caused by obstruction of urine flow that is present at birth. C98885 Congenital Abnormality of the Urinary System C99147 Neonatal Research Network Terminology A C103923 Congenital Postural Scoliosis Congenital Postural Scoliosis Abnormal sideways curvature of the spine that is present at birth. C78603 Scoliosis C99147 Neonatal Research Network Terminology A C103935 Congenital Pulmonary Valve Insufficiency Congenital Pulmonary Insufficiency Congenital Insufficiency of Pulmonary Valve Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth. C95834 Congenital Heart Disease C45525 Heart Valve Disorder C99147 Neonatal Research Network Terminology A C103936 Congential Aortic Valve Insufficiency Congenital Aortic Insufficiency Congenital Insufficiency of Aortic Valve Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. C95834 Congenital Heart Disease C45525 Heart Valve Disorder C99147 Neonatal Research Network Terminology A C103956 Coloboma of the Retina Coloboma of Retina A congenital or acquired defect characterized by the presence of a hole in the retina. C99208 Eye Finding C99147 Neonatal Research Network Terminology A C103968 Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Deficiency A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia. C3492 Specific Enzyme Deficiency C99147 Neonatal Research Network Terminology A C84776 Ichthyosis Ichthyosis A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe. C3371 Integumentary System Disorder|Skin Disorder C99147 Neonatal Research Network Terminology A C98573 Factor V Leiden Mutation Factor V Leiden Factor V Leiden Mutation An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology D C12664 Abdominal Cavity Abdominal Structure The portion of the body that lies between the thorax and the pelvis. C32221 Body Part|Body Structure C99147 Neonatal Research Network Terminology D C19955 Myeloproliferation Hematopoietic Cell Proliferation Myeloproliferation involves both medullary and extramedullary proliferation of bone marrow constituents, such as erythroblasts, granulocytes, megakaryocytes, and fibroblasts. C35814 Hematopoietic Disorder C99147 Neonatal Research Network Terminology D C25762 Cardiovascular System Part Cardiovascular System Structure A term that refers to individual anatomic parts of the heart or the vessels. C32221 Body Part|Body Structure C99147 Neonatal Research Network Terminology D C26869 Pulmonary Fibrosis Interstitial Lung Disease Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause). C98541 Chronic Lung Disease C99147 Neonatal Research Network Terminology D C26927 Hydroureter Congenital Hydroureter Dilatation of the ureter caused by obstruction of urine flow. C98885 Congenital Abnormality of the Urinary System C99147 Neonatal Research Network Terminology D C27090 Degenerative Disorder Degenerative Disorder A disorder characterized by the progressive loss of function and/or structure of the affected tissues. C2991 Disease or Disorder|Disease C99147 Neonatal Research Network Terminology D C27134 Hematopoietic and Lymphoid Cell Neoplasm Hematologic Neoplasm Malignant Tumor of Lymphoid, Hemopoietic and/or Related Tissue|Neoplasm of Hematopoietic Cell Type A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, and myelodysplastic syndromes. C3262 Neoplasm|Neoplastic Disease C99147 Neonatal Research Network Terminology D C3131 Immunodeficiency Syndrome Primary Immune Deficiency Disorder Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function properly. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood. C3507 Immune Disorder|Immunolymphatic System Disorder C99147 Neonatal Research Network Terminology D C3338 Polyploidy Polyploidy Syndrome A numerical chromosomal abnormality characterized by the presence of more than two sets of chromosomes. C2950 Chromosome Abnormality C99147 Neonatal Research Network Terminology D C3367 Finding Clinical Finding Observable Entity Clinical, laboratory or molecular evidence, or absence of evidence of disease. C89505 C99147 Neonatal Research Network Terminology D C34391 Aortic Arch Syndrome Right Aortic Arch A syndrome resulting from structural defects of the arteries that arise from the aortic arch. Signs and symptoms include weakness, dizziness, arm numbness, blurred vision and transient ischemic attacks. A congenital anomaly in which the aorta is displaced to the right and passes behind the esophagus, thus forming a vascular ring that may cause compression of the trachea and esophagus. C99137 Great Vessel Abnormality C99147 Neonatal Research Network Terminology D C34708 Hyperlipoproteinemia Type II Cholesterol Synthesis Disorder Disorder of Cholesterol Synthesis A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins. C3235 Metabolic Disease C99147 Neonatal Research Network Terminology D C34750 Cystic Kidney Disease Fibrocystic Kidney Disease Congenital Cystic Kidney Disease|Multicystic Kidney A congenital or acquired kidney disorder characterized by the presence of renal cysts. C3149 Kidney Disease C99147 Neonatal Research Network Terminology D C35025 Skin Infection Infection of Skin An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. C26726 Infectious Disease C3371 Integumentary System Disorder|Skin Disorder C99147 Neonatal Research Network Terminology D C35111 Posterior Uveitis Choroiditis An inflammatory process that affects the choroid. C26909 Chorioretinitis C99147 Neonatal Research Network Terminology D C35338 Renal Vascular Disorder Renal Vascular Disorder A kidney disorder that results from the damage of the renal arteries or veins. It may lead to renal dysfunction and/or hypertension. C2931 Cardiovascular Disorder C3149 Kidney Disease C99147 Neonatal Research Network Terminology D C35470 Behavior-Related Disorder Behavior Finding A specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment. C96413 Brain Disorder C99147 Neonatal Research Network Terminology D C35814 Hematopoietic and Lymphoid System Disorder Hematopoietic Disorder Disorder of Hematopoietic System|Hemostatic Disorder Any deviation from the normal structure or function of the blood or lymphatic system that is manifested by a characteristic set of symptoms and signs. C26323 Hematological Disorder C99147 Neonatal Research Network Terminology D C35867 Morphologic Finding Morphologically Abnormal Structure A light microscopic finding that describes the cellular characteristics and architectural patterns of cell populations in a tissue sample. C77140 Clinical Test Result|Evaluation Finding C99147 Neonatal Research Network Terminology D C36279 Gastrointestinal System Finding Digestive System Finding Symptoms, physical examination results, and/or laboratory test results related to the gastrointestinal system. C3367 Clinical Finding|Finding C99147 Neonatal Research Network Terminology D C36287 Congenital or Acquired Anatomic Abnormality Deformity An anatomic abnormality that is either present at birth or appears later in life. C2991 Disease or Disorder|Disease C99147 Neonatal Research Network Terminology D C3837 Neurological Signs and Symptoms Neurological Finding A term that refers to the clinical manifestations resulting from pathologic processes that affect the central and peripheral nervous system. C3367 Clinical Finding|Finding C99147 Neonatal Research Network Terminology D C39688 Localized Skin Lesion Skin Lesion A pathologic process that affects the skin and is confined to a specific area. C3371 Integumentary System Disorder|Skin Disorder C99147 Neonatal Research Network Terminology D C3970 Renal Cyst Solitary Multilocular Renal Cyst Abnormal fluid filled sac within the kidney, either acquired or congenital. C2978 Cyst C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology D C41235 Extramedullary Hematopoiesis Skin Discoloration Consistent with Extramedullary Hematopoeis Hematopoiesis that occurs outside of the bone marrow. It occurs during fetal development or it may result from pathologic processes that affect the bone marrow. C35867 Morphologically Abnormal Structure C100104 Signs or Symptoms C99147 Neonatal Research Network Terminology D C43531 Developmental Stage Child Development Status A general term that usually refers to named landmark events during development of an organism. C3367 Clinical Finding|Finding C99147 Neonatal Research Network Terminology D C4767 Malignant Eye Neoplasm Primary Malignant Neoplasm of Eye A primary or metastatic tumor involving the structures of the eye (conjunctiva, cornea, uvea, retina), the lacrimal gland, and the orbit. Representative examples are melanoma, carcinoma, lymphoma, and retinoblastoma. C84509 Primary Malignant Neoplasm C99147 Neonatal Research Network Terminology D C4802 Neurodegenerative Disorder Central Nervous System Degenerative Disease Degenerative Disease of the Central Nervous System A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. C2934 Central Nervous System Disorder C27090 Degenerative Disorder C99147 Neonatal Research Network Terminology D C50634 Liver Dysfunction Liver Finding A finding that indicates abnormal liver function. C36279 Digestive System Finding C99147 Neonatal Research Network Terminology D C50848 Pulmonary Valvular Regurgitation Congenital Insufficiency of Pulmonary Valve The backflow of blood from the pulmonary artery into the right ventricle, owing to insufficiency of the pulmonic semilunar valve. C95834 Congenital Heart Disease C50796 Heart Valve Regurgitation C99147 Neonatal Research Network Terminology D C50910 Osteopenia Osteopenia of Prematurity Osteopenia Decreased calcification or density of bone tissue. C98911 Decreased Bone Density C99147 Neonatal Research Network Terminology D C51223 Aortic Insufficiency Congenital Insufficiency of Aortic Valve Dysfunction of the aortic valve, with incomplete valve closure resulting in valvular regurgitation. C95834 Congenital Heart Disease C50796 Heart Valve Regurgitation C99147 Neonatal Research Network Terminology D C54247 Skin Ulcer Skin Necrosis A circumscribed inflammatory and often suppurating and necrotic lesion on the skin. Causes include trauma, peripheral vascular disorder, diabetes, exposure to heat or cold, exposure to corrosive agents, infections, and prolonged staying in one position (pressure ulcer). C39688 Skin Lesion C99147 Neonatal Research Network Terminology D C61043 Voice Alteration Voice Finding Change in the sound and/or speed of the voice. Causes include laryngeal polyp, laryngitis, laryngeal carcinoma, throat carcinoma, Parkinson's disease, multiple sclerosis, stroke, hypothyroidism, oral surgery, tracheostomy, tracheal injury, and laryngeal injury. C3367 Clinical Finding|Finding C99147 Neonatal Research Network Terminology D C61262 Sanfilippo Syndrome Acetyl-CoA Acyltransferase Deficiency A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures. C3492 Specific Enzyme Deficiency C61259 Mucopolysaccharidosis C99147 Neonatal Research Network Terminology D C61600 Female Genitalia Female Genitalia Finding The external female sexual organs. C36284 Reproductive System Finding C99147 Neonatal Research Network Terminology D C64430 Protein or Enzyme Type Measurement Protein Measurement A term that refers to a chemistry test measuring a specific protein or enzyme in the peripheral blood or body fluid. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology D C64848 Hemoglobin Measurement Hemoglobin Variant Test A quantitative measurement of the amount of hemoglobin present in a sample. C47868 Blood Test C64430 Protein Measurement C99147 Neonatal Research Network Terminology D C73437 APGAR Score Component of Apgar Score The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C81274 Numeric Value C99147 Neonatal Research Network Terminology D C75471 COL1A1 Associated Connective Tissue Disorder Metabolic Disease of Collagen A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis. C97075 Congenital Connective Tissue Disorder C99147 Neonatal Research Network Terminology D C7548 Malignant Renal Neoplasm Malignant Tumor of Kidney Parenchyma Primary or metastatic malignant neoplasm involving the kidney. C9305 Malignant Neoplastic Disease C99147 Neonatal Research Network Terminology D C78650 Aortic Valve Disorder Aortic Valve Disorder A heart disorder characterized by a defect in aortic valve structure or function. C45525 Heart Valve Disorder C99147 Neonatal Research Network Terminology D C79750 Spasticity Increased Muscle Tone Increased involuntary muscle tone caused by central nervous system disorders that affect the regions interfering with voluntary movement. It results in gait, movement, and speech disturbances. Representative examples of disorders causing spasticity include brain or spinal cord injury, and multiple sclerosis. C100104 Signs or Symptoms C99147 Neonatal Research Network Terminology D C8373 Lymphangiomatosis Congenital Lymphangioma A lymphangioma affecting several anatomic sites. C3262 Neoplasm|Neoplastic Disease C99147 Neonatal Research Network Terminology D C84640 Classical Lissencephaly Lissencephaly A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation. C97172 Congenital Abnormality of the Nervous System C99147 Neonatal Research Network Terminology D C84756 Hepatolenticular Degeneration Copper Metabolism Disorder Disorder of Copper Metabolism A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations. C34816 Congenital Metabolic Disorder|Inborn Error of Metabolism C99147 Neonatal Research Network Terminology D C84766 Hydroa Vacciniforme Congenital Ichthyosis of Skin A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas. C97174 Congenital Abnormality of the Skin C99147 Neonatal Research Network Terminology D C84796 Juvenile Myoclonic Epilepsy Myoclonic Seizure An epilepsy characterized by myoclonic jerks, generalized tonic-clonic seizures, and sometimes absence seizures. It appears during adolescence. C2962 Seizure C99147 Neonatal Research Network Terminology D C85045 Retinitis Pigmentosa Retinitis A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness. Retinitis is inflammation of the retina in the eye. C93210 Inflammatory Disorder C35126 Vision Disorder|Visual System Disorder C99147 Neonatal Research Network Terminology D C87124 Central Nervous System Signs and Symptoms Central Nervous System (CNS) Symptom Signs and symptoms associated with disturbances within the central nervous system, which includes the brain, spinal cord and meninges. C100104 Signs or Symptoms C99147 Neonatal Research Network Terminology D C91334 F5 Leiden Allele Factor V Leiden Mutation Human F5 Leiden allele is a variant form of the F5 gene that is located in the vicinity of 1q23 and is approximately 75 kb in length. This allele, which encodes coagulation factor V Leiden protein, is involved in hypercoagulability due to resistance to degradation by activated protein C. C103172 Congenital Coagulation Defect C3101 Genetic Disorder|Hereditary Disease C99147 Neonatal Research Network Terminology D C93210 Inflammatory Disorder Inflammatory Disorder An infectious or non infectious disorder characterized by signs and symptoms derived from focal or extensive tissue infiltration by acute (e.g., polymorphonuclear) or chronic (e.g., lymphocytic-plasmacytic) inflammatory cells. Representative examples of infectious disorders include viral infections, bacterial infections, and parasitic infections. Representative examples of non-infectious inflammatory disorders include inflammatory bowel disease and inflammatory polyps. C2991 Disease or Disorder|Disease C99147 Neonatal Research Network Terminology D C97089 Carbohydrate Metabolism Disorder Carbohydrate Metabolism Disorder Disorder of Carbohydrate Metabolism An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance. C3235 Metabolic Disease C99147 Neonatal Research Network Terminology D C98700 Abdominal Hernia Hernia of Abdominal Wall The protrusion of abdominal contents through a congenital or acquired defect in the abdominal wall. C34685 Hernia C99147 Neonatal Research Network Terminology D C98843 Blood Type Determination Blood Group Antibody Titer Measurement A diagnostic test to classify the blood type of an individual. It is determined based on the presence or absence of certain antigens on the red blood cells surface. C47868 Blood Test C64430 Protein Measurement C99147 Neonatal Research Network Terminology D C98877 Coloboma of the Eye Fundus Coloboma An abnormality in which a part of a structure in one or both eyes is missing. C98887 Congenital Abnormality of Visual System C99147 Neonatal Research Network Terminology D C98887 Congenital Eye Disorder Congenital Abnormality of Visual System A disorder of the eye that is present at birth. Representative examples include congenital cataract, congenital glaucoma, and astigmatism. C2849 Congenital Abnormality C99147 Neonatal Research Network Terminology D C98899 Postural Scoliosis Congenital Postural Scoliosis Usually mild scoliosis that disappears when the person bends forward or sideways. The spine is structurally normal. C78603 Scoliosis C99147 Neonatal Research Network Terminology D C98977 Maternal Transmission Fetus or Newborn Affected by Maternal Transmission of Substance The passage of a substance or infectious agent from the mother to the fetus or newborn. C89328 Pediatric Disease or Disorder C99147 Neonatal Research Network Terminology D C99030 Pulmonary Artery Stenosis Pulmonary Artery Stenosis A congenital or acquired cardiovascular abnormality characterized by the narrowing of the lumen of the main pulmonary artery or its branches. Signs and symptoms include dyspnea, tachypnea, tachycardia, fatigue, and edema. C99137 Great Vessel Abnormality C99147 Neonatal Research Network Terminology C C34676 Hemoglobin SC Disease Sickle Cell-Hemoglobin C Disease A hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin C disease. Patients present with the symptoms of sickle cell disease but the latter are less frequent and severe compared to sickle cell disease. C3092 Hemoglobinopathy C99147 Neonatal Research Network Terminology C C50797 Valvular Regurgitation Heart Valve Regurgitation Regurgitation of the blood of the heart valves owning to imperfect closing, insufficiency or incompetency of the valves. C45525 Heart Valve Disorder C99147 Neonatal Research Network Terminology C C101320 Perinatal Blood Aspiration Syndrome Perinatal Aspiration of Blood Respiratory distress in the newborn due to inhalation of blood; this is an unusual event and is sometimes linked to the non passage of meconium before delivery or mothers with antepartum hemorrhage. C35095 Perinatal Disorder C83507 Respiratory Tract Aspiration C99147 Neonatal Research Network Terminology C 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. C36288 Musculoskeletal Finding C99147 Neonatal Research Network Terminology C C50843 Tricuspid Valve Regurgitation Tricuspid Valve Regurgitation The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. C45525 Heart Valve Disorder C99147 Neonatal Research Network Terminology C C50852 Mitral Valve Regurgitation Mitral Valve Regurgitation The backward flow of blood from the left ventricle into the left atrium, owing to insufficiency of the mitral valve; it may be acute or chronic, usually due to mitral valve prolapse, rheumatic heart disease or a complication of cardiac dilatation. C45525 Heart Valve Disorder C99147 Neonatal Research Network Terminology C C85038 Infant Failure to Thrive Failure to Thrive Failure to Thrive in Infant A clinical finding indicating less than normal growth in infancy. C89330 Developmental Disorder C99147 Neonatal Research Network Terminology C C85202 Tricuspid Valve Atresia Congenital Atresia of Tricuspid Valve A congenital heart defect characterized by the complete lack of formation of the tricuspid valve. Cyanosis is the predominant clinical symptom. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C C101050 Congenital Aortic Septal Defect AortoPulmonary Window Aortic Septal Defect A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery. C84482 Cardiac Septal Defects C99147 Neonatal Research Network Terminology C C101271 Perinatal Central Nervous System Depression Perinatal Central Nervous System Depression Difficult Transition to Extrauterine Life Generalized depression of the central nervous system of an infant during the perinatal period. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C C101304 Hemolytic Disease of the Fetus or Newborn ABO Isoimmunization Hemolytic Disease due to ABO Isoimmunization A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. C34376 Hemolytic Anemia C99147 Neonatal Research Network Terminology C C101314 Coronary Anomaly Coronary Anomalies (includes aneurysm, anomalous) Any deviation from normal in the coronary vasculature. C35729 Congenital Abnormality of the Circulatory System C99147 Neonatal Research Network Terminology C C25215 Karyotype Karyotype The appearance of the chromosomal makeup of a somatic cell in an individual or species, including the number and arrangement and size and structure of the chromosomes. C15709 Genetic Test|Genetic Testing C99147 Neonatal Research Network Terminology C C26721 Hemophilia B Factor IX Deficiency Hereditary Factor IX Deficiency Disease An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX. C3093 Hemophilia C99147 Neonatal Research Network Terminology C C2943 Choledochal Cyst Choledochal Cyst Cystic dilatation of the hepatic duct or bile duct. C2978 Cyst C2990 Digestive System Disorder|Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C3101 Genetic Disorder Genetic Disorder Hereditary Disease Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders. C2991 Disease or Disorder|Disease C99147 Neonatal Research Network Terminology C C3107 Langerhans Cell Histiocytosis Histiocytosis Histiocytic Syndrome A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001) C3262 Neoplasm|Neoplastic Disease C99147 Neonatal Research Network Terminology C C34383 Sickle Cell Disease Sickle Cell (SS only) Sickling Disorder due to Hemoglobin S A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. C3092 Hemoglobinopathy C99147 Neonatal Research Network Terminology C C3944 Congenital Melanocytic Nevus Congenital Melanocytic Nevi Congenital Pigmented Melanocytic Nevus A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion. C3262 Neoplasm|Neoplastic Disease C99147 Neonatal Research Network Terminology C C4375 Nesidioblastosis Nesidioblastosis A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C C50685 Pallor Pallor An unusual or extreme paleness, state of decreased skin coloration. C100104 Signs or Symptoms C99147 Neonatal Research Network Terminology C C61250 Lysosomal Storage Disease Lysosomal Storage Disorder Disorder of Lysosomal Enzymes A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. C34816 Congenital Metabolic Disorder|Inborn Error of Metabolism C99147 Neonatal Research Network Terminology C C75464 Polycystic Kidney Disease Fibrocystic Renal Disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C C81270 Newborn Motor Scale Newborn Motor Scale A range of values used to quantify newborn motor development. C81274 Numeric Value C99147 Neonatal Research Network Terminology C C81283 Red Reflex Vision Test Red Reflex Vision Test An optic examination in which an ophthalmoscope or retinoscope is placed approximately 30cm from the eye to visualize whether a reddish hue is reflected from the retina. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C C84609 Campomelic Dysplasia Campomelic Dysplasia A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects. C84978 Congenital Skeletal Dysplasia C99147 Neonatal Research Network Terminology C C84611 Canavan Disease Canavan Disease Spongy Degeneration of Central Nervous System A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head. Spongy degeneration of central nervous system , spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C C84748 Hartnup Disease Hartnup Disease An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia. C34816 Congenital Metabolic Disorder|Inborn Error of Metabolism 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. Causes include Rh incompatibility, congenital heart defects, and chromosomal abnormalities. C92719 Fetal Disorder 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. C26920 Encephalopathy C99147 Neonatal Research Network Terminology C C87130 Pterygium Colli Pterygium Colli Neck Webbing A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome. C97174 Congenital Abnormality of the Skin C99147 Neonatal Research Network Terminology C C88541 Hemihypertrophy Hemi-hypertrophy A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it. C2849 Congenital Abnormality C99147 Neonatal Research Network Terminology C 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 C27574 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C98842 Holocarboxylase Synthetase Deficiency Holocarboxylase Synthetase Deficiency Neonatal Multiple Carboxylase Deficiency A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma. C3492 Specific Enzyme Deficiency C99147 Neonatal Research Network Terminology C C98864 Primary Carnitine Deficiency Primary Carnitine Deficiency Carnitine Deficiency|Renal Carnitine Transport Defect An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting. C34816 Congenital Metabolic Disorder|Inborn Error of Metabolism C99147 Neonatal Research Network Terminology C C98901 Ureterovesical Obstruction Ureterovesico Junction Obstruction Blockage of the opening between the ureter and the bladder resulting in the reduction or prevention of the urine flow from the ureter to the bladder. C79805 Urinary Tract Obstruction C99147 Neonatal Research Network Terminology C C98933 Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency G-6-PD Variant Enzyme Deficiency Anemia|G6PD An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. C3492 Specific Enzyme Deficiency C99147 Neonatal Research Network Terminology C C98957 Cutaneous Fistula Dermal Fistula Fistula of Skin|Skin Sinus An abnormal communication between the skin and another organ or cavity. C3371 Integumentary System Disorder|Skin 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. C27574 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C99037 Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency Hemolytic Anemia due to Pyruvate Kinase Deficiency An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia. C97090 Amino Acid Metabolism Disorder C99147 Neonatal Research Network Terminology C C99106 Vascular Ring Vascular Ring Vascular Ring of Aorta An unusual congenital abnormality in which the aorta or aortic branches encircle the trachea and esophagus. Signs and symptoms include difficulty swallowing and eating, persistent cough, noisy breathing, and acid reflex. C99137 Great Vessel Abnormality C99147 Neonatal Research Network Terminology C C99144 Branch Pulmonary Artery Stenosis Narrowing of the lumen of the right or left pulmonary artery branch. C99137 Great Vessel Abnormality C99147 Neonatal Research Network Terminology C C99208 Eye Finding Eye Finding Symptoms, physical examination results, and/or laboratory test results related to the eye. C3367 Finding C99147 Neonatal Research Network Terminology C C26837 Osteogenesis Imperfecta Osteogenesis Imperfecta A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones. C97075 Congenital Connective Tissue Disorder C99147 Neonatal Research Network Terminology C C35549 Hypoxic 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. C26920 Encephalopathy C99147 Neonatal Research Network Terminology C C84814 Leigh Disease Leigh's Disease An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C C85040 Pyruvate Carboxylase Deficiency Pyruvate Carboxylase Deficiency A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis. C3492 Specific Enzyme Deficiency C99147 Neonatal Research Network Terminology C C99054 Caudal Regression Syndrome Sacral Agenesis Caudal Regression A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect 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. C98996 Neonatal Disorder C26878 Rickets 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. C99232 Neonatal Respiratory System Disorder C99147 Neonatal Research Network Terminology C C101044 Spina Bifida Occulta Spina Bifida Occulta The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic. C101214 Spina Bifida C99147 Neonatal Research Network Terminology C C2993 Down Syndrome Down Syndrome A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. C2950 Chromosome Abnormality C99147 Neonatal Research Network Terminology C C98996 Neonatal Disorder Neonatal Disorder A non-neoplastic or neoplastic disorder which occurs during the neonatal period. C89328 Pediatric Disease or Disorder C99147 Neonatal Research Network Terminology C C3004 Elliptocytosis Elliptocytosis A peripheral blood finding in which a large number of erythrocytes are shaped in an elliptical form. Elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the patient's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to hemolytic anemia. C36289 Hematopoietic System Finding C99147 Neonatal Research Network Terminology 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 Congenital Anomaly of Pulmonary Veins 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 Congenital Anomaly of Pulmonary Veins C99147 Neonatal Research Network Terminology C C98992 Mitral Valve Atresia Congenital Atresia of Mitral Valve A congenital heart defect characterized by the complete atresia of the mitral valve. A congenital defect where the valve (mitral) which connects the two chambers on the left side of the heart (atrium and ventricle) is closed off. The blood is unable to flow between the two heart chambers. C95834 Congenital Heart Disease C99147 Neonatal Research Network Terminology C C101217 Retinal Examination Retinal Examination An examination of the retina of the eye using an ophthalmoscope. C18020 Diagnostic Procedure C99147 Neonatal Research Network Terminology C C101321 Neonatal Drug Withdrawal Drug Withdrawal Syndrome in Newborn DWN Withdrawal signs and symptoms that present during the neonatal period and are caused by drug use by the pregnant mother. C98996 Neonatal Disorder C103170 Postnatal Drug Withdrawal C99147 Neonatal Research Network Terminology C C102955 Great Blood Vessel Great Blood Vessel Any of the major arteries or veins attached to the cardiac atria or ventricles. This includes the aorta, superior and inferior vena cava and the pulmonary arteries and veins. C32221 Body Part|Body Structure C99147 Neonatal Research Network Terminology C C103225 Ischemic Necrosis Ischemic Necrosis Loss of vascularization and tissue death caused by the disruption in the arterial access. Common causes include trauma due to accidents, insect or reptile bites, severe cold exposure or pathological conditions such as infarctions or blood dyscrasias. C9229 Systemic Disorder C99147 Neonatal Research Network Terminology C C26875 Retinal Disorder Retinal Disorder An abnormal structure or function of the retina and its associated tissues. C99208 Eye Finding C99147 Neonatal Research Network Terminology C C26909 Uveitis Chorioretinitis An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. C99208 Eye Finding C99147 Neonatal Research Network Terminology C C3092 Hemoglobinopathy Hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C C3161 Leukemia Leukemia Leukemia, Disease A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. C3262 Neoplasm|Neoplastic Disease C99147 Neonatal Research Network Terminology C C34568 Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility. C97075 Congenital Connective Tissue Disorder C99147 Neonatal Research Network Terminology C C34602 Ocular Injury Injury of Eye Region Damage to the eye. C3671 Traumatic Injury C99147 Neonatal Research Network Terminology C C34751 Medullary Sponge Kidney Medullary Sponge Kidney A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C C35268 Macrocephaly Macrocephaly An abnormally large head. Causes include hydrocephalus, enlarged brain, and cranial hyperostosis. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C C50462 Aortic Stenosis Aortic Valve Stenosis Narrowing of the orifice of the aortic valve or of the supravalvular or subvalvular regions. C45525 Heart Valve Disorder C99147 Neonatal Research Network Terminology C C61259 Mucopolysaccharidosis Mucopolysaccharidosis A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C C78342 Reflex Reflex Reflex Finding|Reflex Observable An automatic instinctive unlearned reaction to a stimulus. C3367 Finding C99147 Neonatal Research Network Terminology C C81263 Mental Development Index Mental Development Index A sequential arrangement of information pertaining to the evolution of an individual's cognitive development. C81314 Newborn Behavioral Examination C99147 Neonatal Research Network Terminology 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 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 Disease C99147 Neonatal Research Network Terminology C C85204 Triploidy Syndrome Triploidy Syndrome A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects. C2950 Chromosome Abnormality C99147 Neonatal Research Network Terminology C C87077 Fused Eyelid Congenital Ankyloblepharon A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. C99208 Eye Finding C99147 Neonatal Research Network Terminology C C87169 High Pitched Cry High Pitched Cry A symptom in infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes, including birth trauma, craniosynostosis, Arnold-Chiari deformity, meningitis, and cri-du-chat syndrome (deletion of the short arm of chromosome 5). C100104 Signs or Symptoms C99147 Neonatal Research Network Terminology C C92780 Fetal Alcohol Spectrum Disorder Fetal Alcohol Spectrum Disorder A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C97167 Anemia of Prematurity Anemia of Prematurity A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C C98814 Anophthalmos Anophthalmos A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. C2849 Congenital Abnormality C99147 Neonatal Research Network Terminology C C98878 Coloboma of the Eyelid Coloboma of Eyelid A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. C99208 Eye Finding C99147 Neonatal Research Network Terminology C C98879 Coloboma of the Iris Coloboma of Iris A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. C99208 Eye Finding C99147 Neonatal Research Network Terminology C C98906 Fetal Warfarin Syndrome Fetal Warfarin Syndrome Fetal Coumadin Syndrome A rare syndrome characterized by congenital abnormalities caused by fetal exposure to the administration of warfarin to the mother during pregnancy. The congenital abnormalities include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. C92719 Fetal Disorder 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 C99147 Neonatal Research Network Terminology C C98912 Diaphragm Eventration Diaphragmatic Eventration A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. C2991 Disease or Disorder|Disease C99147 Neonatal Research Network Terminology C C98927 Fetal Hydantoin Syndrome Fetal Hydantoin Syndrome A rare syndrome caused by exposure of the fetus to phenytoin. It manifests with growth developmental abnormalities, cleft lip, and abnormal skull and facial characteristics. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98928 Fetal Methotrexate Syndrome Fetal Methotrexate Syndrome A rare syndrome caused by exposure of the fetus to methotrexate. It is characterized by craniofacial, digital, and skeletal malformations. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98929 Fetal Retinoid Syndrome Retinoic Acid Embryopathy Fetal Isoretinoin Syndrome A rare syndrome that affects the fetus and is caused by the maternal use of retinoids during pregnancy. It is characterized by growth delay, skull and facial malformations, heart malformations, and central nervous system malformations. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98930 Fetal Valproate Syndrome Fetal Valproate Syndrome A rare syndrome caused by exposure of the fetus to valproic acid in the first three months of the pregnancy. It is characterized by musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98943 Hereditary Pyropoikilocytosis Hereditary Pyropoikilocytosis An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C C98974 Lithium Induced Birth Defect Lithium-Induced Birth Defects Congenital abnormalities, mainly cardiovascular malformations, which develop in a fetus when the mother uses lithium medication during pregnancy. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98981 Pneumomediastinum Mediastinal Emphysema The presence of air in the mediastinum. It is caused by injury, most often esophageal or intestinal perforation. Mediastinal emphysema is a condition in which air is present in the mediastinum. It can result from physical trauma or other situations that lead to air escaping from the lungs, airways or bowel into the chest cavity. C3671 Traumatic Injury 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 C99147 Neonatal Research Network Terminology C C99064 Spinal Deformity Spinal Deformity A congenital or acquired deformity of the spine. Representative examples include scoliosis, kyphosis, and sagittal imbalance. C2934 Central Nervous System Disorder C99147 Neonatal Research Network Terminology C C99066 Supravalvular Pulmonary Artery Stenosis Supravalvular Pulmonary Artery Stenosis Pulmonary Artery Stenosis, Supravalvar Stenosis of the pulmonary artery that occurs above the valve. C2931 Cardiovascular Disorder C99147 Neonatal Research Network Terminology C C99082 Thalidomide-Induced Birth Defect Thalidomide Embryopathy Syndrome Congenital abnormalities in a fetus caused by thalidomide that the mother took during pregnancy. The congenital abnormalities include phocomelia, and malformations of the ears, eyes, nervous system, heart, and kidneys. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C99145 Spontaneous Perforation Spontaneous Perforation A hole through the wall of an organ that occurs without external influence. C3671 Traumatic Injury C99147 Neonatal Research Network Terminology C C27226 Androgen Insensitivity Syndrome Androgen Resistance Syndrome A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C2950 Cytogenetic Abnormality Chromosome Abnormality An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C2959 Complication Complication Any disease or disorder that occurs during the course of (or because of) another disease. C3367 Finding C99147 Neonatal Research Network Terminology C C2962 Seizure Seizure Sudden, involuntary skeletal muscular contractions of cerebral or brain stem origin. C87124 Central Nervous System Signs and Symptoms 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. C3367 Finding C99147 Neonatal Research Network Terminology C C2989 DiGeorge Syndrome DiGeorge Sequence A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C3391 Sturge-Weber Syndrome Sturge-Weber Syndrome A congenital disorder characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomenigeal angiomas, glaucoma, progressive hemiparesis and cognitive deficits. C3101 Genetic Disorder C84348 Neurocutaneous Syndrome C99147 Neonatal Research Network Terminology C C34370 Amelia Amelia A congenital malformation characterized by the complete absence of all limbs. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C34674 Hemimelia Hemimelia A congenital malformation characterized by the partial or total absence of the distal half of a limb. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C34928 Phocomelia Phocomelia A congenital malformation in which the upper portion of a limb is either shortened or absent. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C35139 Alagille Syndrome Arteriohepatic Dysplasia An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C35552 Cardiovascular System Finding Cardiovascular Finding Symptoms, physical examination results, and/or laboratory test results related to the cardiovascular system. C3367 Finding C99147 Neonatal Research Network Terminology C C36281 Integumentary System Finding Integumentary System Finding Skin Finding Symptoms, physical examination results, and/or laboratory test results related to the integumentary system. C3367 Finding C99147 Neonatal Research Network Terminology C C36288 Connective and Soft Tissue Finding Musculoskeletal Finding Symptoms, physical examination results, and/or laboratory test results related to the connective and soft tissue. C3367 Finding C99147 Neonatal Research Network Terminology C C36289 Hematopoietic System Finding Hematopoietic System Finding Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system. C3367 Finding C99147 Neonatal Research Network Terminology C C40435 Potter Syndrome Oligohydramnios Sequence A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C43262 Exophthalmos Exophthalmos A protrusion of the eyeball from the socket. C99208 Eye Finding C99147 Neonatal Research Network Terminology C C45233 Respiratory System Finding Respiratory Finding Symptoms, physical examination results, and/or laboratory test results related to the respiratory system. C3367 Finding C99147 Neonatal Research Network Terminology C C74984 Stickler Syndrome Stickler Syndrome A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C74986 Van der Woude Syndrome Van Der Woude Syndrome A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75000 Split-Hand/Foot Malformation Ectrodactyly A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75012 Dandy-Walker Malformation Dandy-Walker Syndrome A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75018 Treacher Collins Syndrome Treacher Collins Syndrome A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75034 Type III Acrocephalosyndactyly Saethre-Chotzen Syndrome Acrocephalosyndactyly Type III A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C75100 CHARGE Syndrome Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75458 Pallister-Killian Syndrome Pallister-Killian Syndrome A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75462 Angelman Syndrome Angelman Syndrome A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75463 Prader-Willi Syndrome Prader-Willi Syndrome A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75486 Menkes Disease Menkes Kinky-Hair Syndrome An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair. C3101 Genetic Disorder C97075 Congenital Connective Tissue Disorder C99147 Neonatal Research Network Terminology C C81279 Hemoglobin S to Total Hemoglobin Ratio Measurement Hemoglobin S Measurement The determination of the ratio of Hemoglobin S compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology C C84572 Arthrogryposis Arthrogryposis A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C84585 Barth Syndrome 3-Methylglutaconic Aciduria Type 2 A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84615 Carbohydrate-Deficient Glycoprotein Syndrome Carbohydrate-Deficient Glycoprotein Syndrome An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84655 Craniosynostosis Craniosynostosis Syndrome A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C84683 Ectodermal Dysplasia Ectodermal Dysplasia A group of inherited disorders characterized by malformations of the structures that derive from the ectoderm, such as hair, teeth, nails and sweat glands. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84684 Ellis-Van Creveld Syndrome Chondroectodermal Dysplasia A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84701 Fabry Disease Fabry's Disease A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C C84801 Klippel-Trenaunay-Weber Syndrome Klippel-Trenaunay-Weber Syndrome A rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84893 Mobius Syndrome Oromandibular-Limb Hypogenesis Spectrum A very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84940 Oculocerebrorenal Syndrome Lowe Syndrome An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84978 Osteochondrodysplasia Congenital Skeletal Dysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C85010 Pierre Robin Syndrome Robin Sequence A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C85017 Poland Syndrome Poland Anomaly A rare developmental disorder characterized by underdevelopment or absence of the pectoralis muscle in one side of the chest, usually associated with ipsilateral cutaneous syndactyly, and ipsilateral breast and nipple hypoplasia. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C85033 Prune Belly Syndrome Prune Belly Syndrome A rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C85056 Scimitar Syndrome Scimitar Syndrome A rare congenital cardiopulmonary defect characterized by abnormal right-sided pulmonary venous drainage and right lung malformations. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C85071 Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C85187 Thanatophoric Dysplasia Thanatophoric Dysplasia A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C89330 Developmental Disorder C99147 Neonatal Research Network Terminology C C85222 Waardenburg Syndrome Waardenburg's Syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C85232 Williams Syndrome Williams Syndrome A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C85866 Autosomal Recessive Inherited Disorder Autosomal Recessive Hereditary Disorder An inherited disorder manifested only when two copies of a mutated gene are present. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C87094 Micrognathism Congenital Micrognathism A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C87110 Polydactyly Polydactyly A congenital abnormality characterized by more than 5 digits on a hand or foot. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C87125 Syndactyly Syndactyly A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C92258 Hemoglobin A Measurement Hemoglobin A Measurement The determination of the amount of hemoglobin A present in a sample. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology C C92259 Hemoglobin A2 Measurement Hemoglobin A2 Measurement The determination of the amount of hemoglobin A2 present in a sample. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology C C92261 Hemoglobin C Measurement Measurement of Hemoglobin C The determination of the amount of hemoglobin C present in a sample. C64848 Hemoglobin Measurement C99147 Neonatal Research Network Terminology C C98609 TORCH Syndrome Toxoplasmosis, Other Infections, Rubella, Cytomegalovirus, and Herpes Simplex Virus (TORCH) Syndrome A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. C3101 Genetic Disorder C26726 Infectious Disease C99147 Neonatal Research Network Terminology C C98816 APGAR Score at One Minute Apgar Score At 1 Minute The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at one minute after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 APGAR Score C99147 Neonatal Research Network Terminology C C98817 APGAR Score at Ten Minutes Apgar Score At 10 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at ten minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 APGAR Score C99147 Neonatal Research Network Terminology C C98819 APGAR Score at Fifteen Minutes Apgar Score At 15 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at fifteen minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 APGAR Score C99147 Neonatal Research Network Terminology C C98820 APGAR Score at Twenty Minutes Apgar Score At 20 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at twenty minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 APGAR Score C99147 Neonatal Research Network Terminology C C98821 APGAR Score at Five Minutes Apgar Score At 5 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at five minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 APGAR Score C99147 Neonatal Research Network Terminology C C98829 Autosomal Dominant Inherited Disorder Autosomal Dominant Hereditary Disorder An inherited disorder that manifests when one copy of a mutated gene is present. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98889 Congenital Central Hypoventilation Syndrome Congenital Central Hypoventilation A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98893 Congenital Diaphragmatic Hernia Congenital Diaphragmatic Hernia Diaphragmatic hernia that is present at birth. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C34687 Diaphragmatic Hernia C99147 Neonatal Research Network Terminology C C98897 Thumb Hypoplasia Congenital Malformation of Thumb A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C98967 Klippel-Feil Syndrome Klippel-Feil Sequence A rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98978 Meckel-Gruber Syndrome Meckel-Gruber Syndrome A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98982 MMIH Syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98991 Mitochondrial Trifunctional Protein Deficiency Mitochondrial Trifunctional Protein Deficiency A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98997 Omphalocele Congenital Omphalocele A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. C89337 Congenital Abnormality of the Musculoskeletal System|Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C99008 Pena-Shokeir Syndrome Pena-Shokeir Phenotype An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C99038 Thrombocytopenia-Absent Radius Syndrome Radial Aplasia-Thrombocytopenia Syndrome A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone. C3101 Genetic Disorder C97075 Congenital Connective Tissue Disorder C99147 Neonatal Research Network Terminology C C99080 Tethered Spinal Cord Syndrome Tethered Cord Spinal Cord Syndrome A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C99081 Arakawa's Syndrome II Tetrahydrofolate Methyltransferase Deficiency A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C99085 Townes-Brocks Syndrome Townes Syndrome An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C99115 Immature Retinal Vasculature Immature Retinal Vasculature A finding that indicates the presence of immature retinal vessels as a result of prematurity. Retinal vessels in premature infants which do not complete their normal growth. For the purpose of defining the location, three concentric zones were defined. Since retinal vascular development proceeds from the optic nerve to the ora serrata, the zones are centered on the optic disc rather than the macula. C99208 Eye Finding C99147 Neonatal Research Network Terminology C C102977 Meconium Peritonitis Meconium Peritonitis Inflammation of the peritoneum due to an infection caused by meconium contamination. C26726 Infectious Disease C99147 Neonatal Research Network Terminology C C26715 Cellulitis Cellulitis A bacterial infection that affects and spreads in the skin and soft tissues. Signs and symptoms include pain, tenderness and reddening in the affected area, fever, chills, and lymphadenopathy. C2890 Bacterial Disease 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. C27582 Central Nervous System Infectious Disease C99147 Neonatal Research Network Terminology C C35145 Acute Appendicitis Appendicitis Acute inflammation of the vermiform appendix. Appendicitis is a condition characterized by inflammation of the appendix, a small pouch attached to the beginning of the large intestine. C26726 Infectious Disease C99147 Neonatal Research Network Terminology C C84446 Neonatal Hepatitis Neonatal Hepatitis Hepatitis developing during the neonatal period. C2990 Digestive System Disorder|Gastrointestinal Disorder C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C84915 Necrotizing Enterocolitis Necrotizing Enterocolitis In Fetus Or Newborn A serious, life-threatening disorder characterized by necrotic changes affecting portions of the small and large intestine. It is usually seen in neonates, particularly premature infants. Signs and symptoms include abdominal distention and tenderness, intestinal bleeding and ileus. It may lead to cardiovascular collapse and shock. C97171 Congenital Abnormality of the Digestive System C99147 Neonatal Research Network Terminology C C9224 Esophagitis Esophagitis An acute or chronic inflammatory process affecting the esophageal wall. C2990 Digestive System Disorder|Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C98888 Congenital Cataract Congenital Cataract Cataract that is present at birth. C26713 Cataract C2849 Congenital Abnormality C99147 Neonatal Research Network Terminology C C98898 Congenital Methemoglobinemia Congenital Methemoglobinemia Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. C2869 Anemia C104003 Congenital Hematological Disorder C99147 Neonatal Research Network Terminology C C34415 Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C61274 Fucosidosis Fucosidosis An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances. C85866 Autosomal Recessive Hereditary Disorder C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C C61275 Mannosidosis Mannosidosis A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. C85866 Autosomal Recessive Hereditary Disorder C61250 Lysosomal Storage Disorder C99147 Neonatal Research Network Terminology C C75016 Cornelia De Lange Syndrome 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 C75019 Sotos Syndrome Sotos' Syndrome A rare genetic syndrome caused by mutations in the NSD1 gene. It is characterized by excessive physical growth early in life, mild mental retardation, and delayed cognitive and social development. Children affected by this syndrome are tall with larger than normal heads. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C75466 Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84579 Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Infantile Type Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. C85866 Autosomal Recessive Hereditary Disorder C75464 Fibrocystic Renal Disease C99147 Neonatal Research Network Terminology C C85068 Silver-Russell Syndrome Russell-Silver Syndrome A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present. C89330 Developmental Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98894 Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome A rare congenital cardiovascular disorder characterized by severe underdevelopment of the left side of the heart. Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy. C95834 Congenital Heart Disease C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C99053 Hypoplastic Right Heart Syndrome Right Hypoplastic Heart Syndrome A rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment. C95834 Congenital Heart Disease C3101 Genetic Disorder C99147 Neonatal Research Network Terminology