A C34675 Hemoglobin C Disease Hemoglobin C Disease An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice. C3092 Hemoglobinopathy C99147 Neonatal Research Network Terminology A C34832 Myoclonic Jerk Myoclonic Jerk A sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases including epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jacob disease. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology A C87085 Hypertonia Hypertonia Increased Muscle Tone A condition of increased muscle tone manifested by increased resistance of the muscle to passive stretching. A condition characterized by increased resistance to passive stretching and abnormal positioning due to spasticity.|Abnormally high muscle tone. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C34982 Retinopathy of Prematurity Retinopathy of Prematurity A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. A retinal condition of very immature infants that may be characterized by non-vascularized retina that may lead to neovascularization, scarring, retinal detachment, and blindness.|A vasoproliferative condition of very immature newborn infants that may be characterized by non-vascularized retina leading to neovascularization, scarring, retinal detachment, and eventually blindness. C98996 Neonatal Disorder C62601 Retinopathy C99147 Neonatal Research Network Terminology C C97075 Hereditary Connective Tissue Disorder Hereditary Connective Tissue Disorder Connective Tissue Hereditary Disorder An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. C26729 Connective Tissue Disorder C99147 Neonatal Research Network Terminology C C101200 Neonatal Alloimmune Thrombocytopenia Neonatal Alloimmune Thrombocytopenia Neonatal Thrombocytopenia due to Platelet Alloimmunization Thrombocytopenia that occurs in neonates as a consequence of transplacental passage of maternal alloantibodies directed against fetal platelet antigens. Thrombocytopenia that occurs in neonates as a consequence of transplacental passage of maternal alloantibodies directed against fetal platelet antigens. C98995 Neonatal Thrombocytopenia C99147 Neonatal Research Network Terminology C C101317 Fracture of Long Bone Related to Birth Fracture of Long Bone Related to Birth Fracture of Long Bone Related to Birth Trauma An injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width. A breakage in any of the elongated bones of the extremities sustained during the birthing process. C116822 Fracture Related to Birth C99147 Neonatal Research Network Terminology C C110923 Chorioretinitis Chorioretinitis Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. A form of posterior uveitis in which the choroid and retina are inflamed. C115993 Retinitis C99147 Neonatal Research Network Terminology C C26891 Thrombosis Thrombosis The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. Formation of a blood clot within a blood vessel or the heart. C35117 C99147 Neonatal Research Network Terminology C C3043 Fibrosarcoma Fibrosarcoma Malignant Fibromatous Neoplasm A malignant mesenchymal tumor affecting soft tissues and bone. It is classified as adult or infantile. Infantile fibrosarcomas generally have a much more favorable prognosis than adult fibrosarcomas. C9118 Sarcoma C99147 Neonatal Research Network Terminology C C3161 Leukemia Leukemia Leukemia, Disease A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. A cancer of the blood or bone marrow that is characterized by increased production of abnormal blood cells. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C C3319 Pericardial Effusion Pericardial Effusion Fluid collection within the pericardial sac, usually due to inflammation. Fluid collection within the pericardial sac. C101327 Pericardial Anomaly C99147 Neonatal Research Network Terminology C C3359 Rhabdomyosarcoma Rhabdomyosarcoma A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes. C9118 Sarcoma C99147 Neonatal Research Network Terminology C C79849 Bladder Fistula Bladder Fistula An abnormal communication between the urinary bladder and another organ or anatomic site. C3045 Fistula C3430 Urinary System Disorder 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. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C C98957 Cutaneous Fistula Cutaneous Fistula Dermal Fistula or Sinus|Dermal Fistula|Fistula of Skin|Skin Sinus An abnormal communication between the skin and another organ or cavity. C3045 Fistula C3371 Skin Disorder C99147 Neonatal Research Network Terminology C C79847 Vaginal Fistula Vaginal Fistula Fistulous Opening in Vagina An abnormal communication between the vagina and another organ or cavity. C27020 Female Reproductive System Disorder C3045 Fistula C99147 Neonatal Research Network Terminology C C84479 Thrombophilia Thrombophilia Hypercoagulability State A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. Abnormally increased tendency of the blood to form clots. C2902 Coagulation Defect|Coagulopathy C99147 Neonatal Research Network Terminology C C99029 Pulmonary Arteriovenous Fistula Pulmonary Arteriovenous Fistula Arteriovenous Fistula of Pulmonary Vessels|Pulmonary AV Fistula|Pulmonary Arteriovenous Malformation A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C3045 Fistula C99147 Neonatal Research Network Terminology C C99265 Congenital Complete Atrioventricular Block Congenital Complete Atrioventricular Block A disorder characterized by an electrocardiographic finding of a complete atrioventricular block that manifests during fetal life or soon after birth. It may be isolated or associated with other congenital heart defects. Isolated congenital complete atrioventricular block may be associated with maternal connective tissue disorders. C50501 Atrioventricular Block, Third Degree|Complete Atrioventricular Block C99147 Neonatal Research Network Terminology C C34345 Achondroplasia Achondroplasia An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (MeSH) C89330 Developmental Disorder C84978 Osteochondrodysplasia|Skeletal Dysplasia C99147 Neonatal Research Network Terminology C C99137 Great Vessels Abnormality Great Vessels Abnormality Great Vessel Abnormality A congenital vascular abnormality that affects the great vessels and/or aortic arch. Representative examples include double aortic arch, aortic coarctation, and absence of a pulmonary artery. C35729 Congenital Abnormality of the Circulatory System|Congenital Cardiovascular Abnormality C35117 C99147 Neonatal Research Network Terminology C C98814 Anophthalmos Anophthalmos A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. C2849 Congenital Abnormality|Congenital Malformation C26767 C99147 Neonatal Research Network Terminology C C98908 Cryptophthalmos Syndrome Cryptophthalmos Syndrome A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly. C2849 Congenital Abnormality|Congenital Malformation C26767 C99147 Neonatal Research Network Terminology C C98989 Microphthalmos Microphthalmos A congenital abnormality characterized by the presence of an abnormally small eye globe. C2849 Congenital Abnormality|Congenital Malformation C26767 C99147 Neonatal Research Network Terminology C C101318 Fracture of Skull Related to Birth Fracture of Skull Related to Birth Fracture of Skull Related to Birth Trauma An injury sustained during the birthing process in which the continuity is broken in the skull. A broken skull bone sustained during the birthing process. C116822 Fracture Related to Birth C50745 Skull Fracture C99147 Neonatal Research Network Terminology C C103956 Coloboma of the Retina Coloboma of Retina A congenital or acquired defect characterized by the presence of a hole in the retina. C26875 Retinal Disorder C99147 Neonatal Research Network Terminology C C26875 Retinal Disorder Retinal Disorder An abnormal structure or function of the retina and its associated tissues. C26767 C99147 Neonatal Research Network Terminology C C2938 Cerebrovascular Disorder Cerebrovascular Disease A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C C34732 Intestinal Fistula Intestinal Fistula Fistula of Intestine An abnormal communication between the small or large intestine and another organ or cavity. C78319 C99147 Neonatal Research Network Terminology C C34803 Primary Malignant Liver Neoplasm Primary Malignant Liver Neoplasm Primary Malignant Neoplasm of Liver An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology C C35080 Tracheoesophageal Fistula Tracheoesophageal Fistula A congenital or acquired abnormal communication between the trachea and the esophagus. C3045 Fistula C99147 Neonatal Research Network Terminology C C48592 Gastrointestinal Hemorrhage Gastrointestinal Hemorrhage Bleeding originating from any part of the gastrointestinal tract. Hemorrhage originating at any site located within the gastrointestinal tract. C2990 Gastrointestinal Disorder C26791 Hemorrhage C99147 Neonatal Research Network Terminology C C79574 Esophageal Fistula Esophageal Fistula An abnormal communication between the esophagus and another organ or anatomic site. C78319 C99147 Neonatal Research Network Terminology C C98936 Hematochezia Hematochezia The passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage. The presence of fresh blood mixed in the fecal matter; usually as a result of lower gastrointestinal tract hemorrhage. C3368 Gastrointestinal System Signs and Symptoms C99147 Neonatal Research Network Terminology C C99017 Phrenic Nerve Palsy Phrenic Nerve Palsy Intermittent, incomplete or complete paralysis with or without tremors to any of the organs or body parts innervated by the phrenic nerve. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5. C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C C99036 Pulmonary Vein Stenosis Pulmonary Vein Stenosis Obstruction of the pulmonary vein in one or multiple sites. The obstruction is the result of wall thickening and narrowing of the lumen of the vein. C99137 Great Vessels Abnormality 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. C26875 Retinal Disorder C99147 Neonatal Research Network Terminology C C99248 Neonatal Diabetes Mellitus Neonatal Diabetes Mellitus Hyperglycemia in the newborn due to a defect in the secretion or function of insulin. Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin. C2985 C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C99261 Perinatal Intracranial Hemorrhage Perinatal Intracranial Hemorrhage Bleeding within the skull of a newborn infant occurring around the time of birth. Bleeding within the skull of a newborn infant occurring around the time of birth. C50438 Intracranial Hemorrhage C35095 Perinatal Disorder C99147 Neonatal Research Network Terminology C C84641 Clubfoot Clubfoot Talipes Equinovarus The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. A congenital malformation involving one or both feet, in which the affected foot is rotated inward and downward. C84978 Osteochondrodysplasia|Skeletal Dysplasia C99147 Neonatal Research Network Terminology C C50711 Pseudoaneurysm Pseudoaneurysm The creation of hematoma outside the arterial wall following bleeding due to puncture of the arterial wall. Pseudoaneurysms can also occur in the heart chambers following myocardial infarction and bleeding. C35117 C99147 Neonatal Research Network Terminology C C50713 Pulmonary Embolism Pulmonary Embolism The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. The obstruction of blood flow by an embolus within the pulmonary circulation. C26759 C99147 Neonatal Research Network Terminology C C84609 Campomelic Dysplasia Campomelic Dysplasia A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects. C84978 Osteochondrodysplasia|Skeletal Dysplasia C99147 Neonatal Research Network Terminology C C84632 Chondrodysplasia Punctata Chondrodysplasia Punctata Chondrodysplasia Punctata (Stippled Epiphyses) Group A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. C84978 Osteochondrodysplasia|Skeletal Dysplasia C99147 Neonatal Research Network Terminology C C99066 Supravalvular Pulmonary Artery Stenosis Supravalvular Pulmonary Artery Stenosis Pulmonary Artery Stenosis, Supravalvar Stenosis of the pulmonary artery that occurs above the valve. C35117 C99147 Neonatal Research Network Terminology C C99141 Radial Hypoplasia Radial Hypoplasia Congenital Hypoplasia of Radius A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity. C84978 Osteochondrodysplasia|Skeletal Dysplasia C99147 Neonatal Research Network Terminology C C26713 Cataract Cataract Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) Opacity of the crystalline lens. C26767 C99147 Neonatal Research Network Terminology C C26782 Glaucoma Glaucoma Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. Optic nerve damage secondary to increased intraocular pressure. C26767 C99147 Neonatal Research Network Terminology C C51224 Atrial Flutter Atrial Flutter A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) A rapid heart rate, associated with a regular rhythm, that is caused by abnormal electrical activity within the atria. C27158 Supraventricular Arrhythmia C99147 Neonatal Research Network Terminology C C84978 Osteochondrodysplasia Osteochondrodysplasia Congenital Skeletal Dysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. A complex group of bone and cartilage disorders that result in abnormalities in the size and shape of the trunk, extremities, and/or skull. C89337 Congenital Musculoskeletal Defect C99147 Neonatal Research Network Terminology C C90599 Bronchopulmonary Dysplasia Bronchopulmonary Dysplasia Chronic lung disease requiring treatment with oxygen for at least 28 days and with a spectrum of severity from mild to severe, that predominantly affects premature infants. While the radiologic pattern is typical in the closer to term patient, the pattern in the small preterm infant is very non-discrete and variable. A chronic lung disorder associated with pulmonary maldevelopment, scarring, inflammation that develops in preterm neonates. The condition is defined based on treatment with supplemental oxygen for at least 28 days adjusted for the degree of prematurity. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C98823 Apnea of Prematurity Apnea of Prematurity The cessation of breathing in premature infants that lasts for more than 15-20 seconds. Any cessation of breathing in an infant less than 37 weeks gestational age that persists for at least 20 seconds or is accompanied by bradycardia and/or blood oxygen desaturation. C26698 Apnea C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C3368 Digestive System Signs and Symptoms Gastrointestinal System Signs and Symptoms Signs and symptoms associated with disturbances within the digestive system, which includes the stomach, intestines and all associated organs that aid in digestion. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C79470 Digestive System Perforation Gastrointestinal Perforation A rupture in the wall of any structure of the digestive system caused by traumatic or pathologic processes. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C101326 Heterotaxy Syndrome with Asplenia Heterotaxy Syndrome with Asplenia Heterotaxy, Asplenia A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; in this manifestation of the disorder, the spleen is absent. C87083 Heterotaxy C99147 Neonatal Research Network Terminology C C98848 Congenital Bundle of His Tachycardia Congenital Bundle of His Tachycardia Congenital His Bundle Tachycardia|Junctional Ectopic Tachycardia, Congenital A congenital disorder characterized by an electrocardiographic finding of tachycardia that affects neonates and infants. It results from an increased automaticity in the atrioventricular node and His bundle. C110938 Tachyarrhythmia C99147 Neonatal Research Network Terminology C C2990 Digestive System Disorder Gastrointestinal Disorder Digestive System Disorder|Disorder of Digestive System A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology D C110943 Musculoskeletal Injury Injury of Musculoskeletal System Damage to the muscles, bones and their supportive structral attachments. C3671 Injury C99147 Neonatal Research Network Terminology D C117115 Fatty Acid Metabolism Disorder Fatty Acid Metabolism Disorder Disorder of Fatty Acid Metabolism A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. C97092 Lipid Metabolism Disorder C99147 Neonatal Research Network Terminology D C77140 Clinical Test Result Clinical Test Result Evaluation Finding The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. C70856 Observational Result C99147 Neonatal Research Network Terminology D C84509 Primary Malignant Neoplasm Primary Malignant Neoplasm A malignant tumor at the original site of growth. C9305 Cancer|Malignant Neoplasm C99147 Neonatal Research Network Terminology D C85866 Autosomal Recessive Disorder Autosomal Recessive Disorder Autosomal Recessive Hereditary Disorder An inherited disorder manifested only when two copies of a mutated gene are present. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology D C98643 Venous Stenosis Venous Stenosis A finding indicating narrowing of a vein in one or multiple areas. C35117 Vascular Disorder C99147 Neonatal Research Network Terminology D C98829 Autosomal Dominant Disorder Autosomal Dominant Disorder Autosomal Dominant Hereditary Disorder An inherited disorder that manifests when one copy of a mutated gene is present. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology D C99062 Skin Injury Skin Injury Injury of Integument Damage to the skin. C3671 Injury C99147 Neonatal Research Network Terminology