A C110943 Musculoskeletal Injury Injury of Musculoskeletal System Damage to the muscles, bones and their supportive structral attachments. C3671 Injury C99147 Neonatal Research Network Terminology A C117115 Fatty Acid Metabolism Disorder Fatty Acid Metabolism Disorder Disorder of Fatty Acid Metabolism A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. C97092 Lipid Metabolism Disorder C99147 Neonatal Research Network Terminology A 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 A 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 A 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 A 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 A 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 A C99062 Skin Injury Skin Injury Injury of Integument Damage to the skin. C3671 Injury C99147 Neonatal Research Network Terminology C C103923 Congenital Postural Scoliosis Congenital Postural Scoliosis Abnormal sideways curvature of the spine that is present at birth. C89337 Congenital Musculoskeletal Defect C78603 Scoliosis C99147 Neonatal Research Network Terminology C C3093 Hemophilia Hemophilia A deficiency or abnormality of a blood coagulation factor characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage, Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (factor VIII deficiency) hemophilia B or Christmas disease (factor IX deficiency), and hemophilia C (factor XI deficiency). In individuals without hereditary hemophilia A, factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in a condition known as 'acquired hemophilia.' Approximately 10 % of patients with acquired hemophilia have an underlying malignancy. C27215 Coagulation Factor Deficiency C103172 Congenital Bleeding Disorder C99147 Neonatal Research Network Terminology C C34610 Polyostotic Fibrous Dysplasia Polyostotic Fibrous Dysplasia Polyostotic Fibrous Dysplasia of Bone A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation. C3101 Genetic Disorder C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C78603 Scoliosis Scoliosis A congenital or acquired spine deformity characterized by lateral curvature of the spine. C107377 Musculoskeletal System Disorder C99064 Spinal Deformity C99147 Neonatal Research Network Terminology C C98942 Hereditary Coagulation Factor Deficiency Hereditary Coagulation Factor Deficiency An inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding. C27215 Coagulation Factor Deficiency C103172 Congenital Bleeding Disorder C99147 Neonatal Research Network Terminology C C84787 Incontinentia Pigmenti Incontinentia Pigmenti Incontinentia Pigmenti Syndrome A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation. C97174 Congenital Skin Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98934 Harlequin Ichthyosis Harlequin Ichthyosis A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures. C97174 Congenital Skin Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C101333 Coagulation Disorder Related to Liver Dysfunction Coagulation Disorder Related to Liver Dysfunction Blood Coagulation Disorder due to Liver Disease|Coagulation Defects due to Liver Disease A disorder of blood clotting that is attributable to a deficiency in liver function. C34347 Acquired Coagulation Factor Deficiency 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. C35117 C99147 Neonatal Research Network Terminology C C34347 Acquired Coagulation Factor Deficiency Acquired Coagulation Factor Deficiency Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. C27215 Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C C81282 Dubowitz Score Dubowitz Score The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to determine an infant's gestational age and maturity. The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to estimate an infant's gestational age and maturity. C118807 C99147 Neonatal Research Network Terminology C C81314 Newborn Behavioral Examination Newborn Behavioral Examination The assessment of behavior in neonates. A neurodevelopmental assessment of the strengths, adaptive responses, and possible vulnerabilities in neonates. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C C89515 Neonatal Abstinence Syndrome Assessment Neonatal Abstinence Syndrome Assessment The measurement of the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse; the score can be used to determine subsequent treatment of the infant. An assessment to measure the constellation of features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C C89519 Popliteal Angle Measurement Popliteal Angle Measurement An examination whereby the patient is placed supine, the hip is flexed 90 degrees, and the knee is extended until firm resistance is met. The popliteal angle is the angle from the tibia to the femur. This measurement is used to assess hamstring contracture in children with cerebral palsy. A test of neuromuscular maturity, which measures leg extensibility and resistance to extensor stretching, used during the clinical assessment of gestational age and muscle tone during the first five days of life. C84749 Newborn Examination 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, and/or 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.|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 C99057 Severe Bronchopulmonary Dysplasia Severe Bronchopulmonary Dysplasia Bronchopulmonary dysplasia that results in severe respiratory complications. The infants with severe symptoms are usually premature, have low birth weight, and the oxygen and ventilation support requirements are increased. A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with severe BPD, there is a supplemental oxygen requirement of greater than or equal to 30% and/or positive pressure at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with severe BPD, there is a supplemental oxygen requirement of greater than or equal to 30% and/or positive pressure at 56 days post-natal age or at earlier discharge. C90599 Bronchopulmonary Dysplasia 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. Incomplete retinal vascular development commonly seen as a result of prematurity that may be described in three zones. Since retinal vascular development proceeds from the optic nerve to the ora serrata, the zones are described based on their relationship to the optic disc rather than the macula. C26875 Retinal Disorder C99147 Neonatal Research Network Terminology C C99236 Neonatal Lupus Erythematosus Neonatal Lupus Erythematosus A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. An erythematous rash, which may be photosensitive, resulting from the transplacental transfer of maternal anti-Ro/SSA and anti-La/SSB antibodies, that normally subsides within the first few months of life and is closely associated with irreversible congenital heart block. C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C4731 Neuropathy Neuropathy A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology