A C123308 Congenital Myotonic Dystrophy Congenital Myotonic Dystrophy Myotonic dystrophy that is present at birth. C84914 Myotonic Dystrophy C99147 Neonatal Research Network Terminology C C85033 Prune Belly Syndrome Prune Belly Syndrome Syndrome of Agenesis of Abdominal Muscles|Triad 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. A congenital syndrome, occurring almost exclusively in males, characterized by partial or complete absence of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes, with or without renal insufficiency. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology Eagle-Barrett Syndrome C C40341 Hypospadias Hypospadias A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities. A congenital condition in which the urethra fails to develop properly, and the opening of the urethra is located on the ventrum of the penis, scrotum, or perineum. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C C98923 Epispadias Epispadias A rare congenital abnormality that mostly affects males. In males, it is characterized by the presence of the urethral opening in the dorsal surface of the penis. In females, this abnormality is even rarer and is characterized by the presence of an elongated urethra that has developed too far anteriorly. A congenital condition in which the urethra fails to develop properly, and the opening of the urethra is located on the dorsum of the penis. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C C79849 Bladder Fistula Bladder Fistula An abnormal communication between the urinary bladder and another organ or anatomic site. C2900 Bladder Disorder C3045 Fistula C99147 Neonatal Research Network Terminology C C101198 Congenital Facial Nerve Palsy Congenital Facial Nerve Palsy Partial or complete paralysis of the facial muscles of one side of an individual's face that is present at birth. It is caused by damage to the seventh cranial nerve. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve that has occurred before birth. C97172 Congenital Nervous System Disorder C26769 Facial Nerve Palsy C99147 Neonatal Research Network Terminology C C102990 Brachial Plexus Palsy Related to Birth Brachial Plexus Palsy Related to Birth Brachial Plexus Palsy due to Birth Trauma Birth injury to the brachial plexus. It results in paralysis of the muscles of the shoulder, arm, and hand. It manifests as lack of mobility in the arm, usually in the first week of life. In the majority of cases there is spontaneous recovery. A condition characterized by reduced or absent movement of the ipsilateral shoulder, arm or hand as a consequence of an injury to the brachial plexus, cervical roots 5 through 8 and thoracic root 1, sustained during the birthing process. C101035 Birth Injury C3310 Paralysis C99147 Neonatal Research Network Terminology C C103226 Pulmonary Trunk Hypoplasia Pulmonary Trunk Hypoplasia Underdeveloped pulmonary arteries. C98882 Congenital Lung Malformation C99137 Great Vessels Abnormality 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 C97172 Congenital Nervous System Disorder Congenital Nervous System Disorder Congenital Abnormality of the Nervous System An abnormality of the nervous system that is present at birth or detected in the neonatal period. C2849 Congenital Malformation C26835 Nervous System Disorder 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 C99025 Protein C Deficiency Disease Protein C Deficiency Disease A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. C103172 Congenital Bleeding Disorder C84479 Hypercoaguability C99147 Neonatal Research Network Terminology C C99026 Protein S Deficiency Disease Protein S Deficiency Disease A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. C103172 Congenital Bleeding Disorder C84479 Hypercoaguability C99147 Neonatal Research Network Terminology C C99108 Vitamin K Deficiency Vitamin K Deficiency Vitamin K Deficiency Coagulation Disorder Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. C27215 Coagulation Factor Deficiency C35772 Vitamin Deficiency Disorder C99147 Neonatal Research Network Terminology C C84579 Autosomal Recessive Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Infantile Type Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. Autosomal recessive polycystic kidney disease caused by a mutation(s) in PKHD1 that is always associated with liver disease. C3101 Genetic Disorder C75464 Polycystic Kidney Disease C99147 Neonatal Research Network Terminology C C99024 Premature Closure of Ductus Arteriosus Premature Closure of Ductus Arteriosus Ductus Arteriosus Premature Closure|Premature Closure of the Ductus Arteriosus Closure of the ductus arteriosus prior to birth. Closure of the ductus arteriosus prior to birth. C35729 Congenital Cardiovascular Abnormality C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C C2849 Congenital Abnormality Congenital Malformation Congenital Abnormality|Congenital Anomalies of Fetus|Congenital Deformity Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. A morphologic defect of an organ, part of an organ, or larger region of the body that results from an intrinsically abnormal developmental process during gestation. C36287 Congenital or Acquired Anatomic Abnormality C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C C2902 Coagulation Disorder Coagulopathy Coagulation Defect A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. A condition of abnormal blood clotting or bleeding. C2931 Cardiovascular Disorder C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C C98990 Neuronal Migration Disorder Neuronal Migration Abnormalities Migration Defects|Neuronal Migration Disorder A diverse group of congenital brain developmental disorders characterized by defects in neuronal migration in the brain during early fetal development. The neuronal migration defects result in brain abnormalities that are usually manifested with mental retardation and epilepsy. A developmental brain abnormality characterized by abnormal migration of neurons during cortical development. C96412 Brain Development Abnormality C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C103936 Congenital Aortic Valve Insufficiency 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 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C C101028 Neonatal Aspiration of Amniotic Fluid Neonatal Aspiration of Amniotic Fluid Inhalation of fluid from the amniotic sac into the lungs by the neonate. Aspiration of amniotic fluid around the time of delivery resulting in severe respiratory distress. C98996 Neonatal Disorder C83507 Aspiration 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 C101320 Perinatal Blood Aspiration Syndrome 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 Aspiration C99147 Neonatal Research Network Terminology C C103935 Congenital Pulmonary Valve Insufficiency Congenital Pulmonary Valve Insufficiency Congenital Insufficiency of Pulmonary Valve|Congenital Pulmonary Insufficiency Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth. C95834 Congenital Heart Disease C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C C116994 Lupus Anticoagulant Disorder Lupus Anticoagulant Disorder A hypercoaguable state that results from the presence of the immunoglobulin known as Lupus Anticoagulant. The antibody interacts with cell membrane phospholipids, causing increased aggregation and adhesion of platelets, which causes increased clot formation. Though the majority of patients who test positive for lupus anticoagulant do not have lupus, those individuals afflicted with lupus have a higher probability of developing the antibody. C2889 Autoimmune Disease C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C 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 Phakomatosis 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 C99147 Neonatal Research Network Terminology C C34599 Excoriation Excoriation Excoriation of Skin Self-inflicted tearing or wearing off of skin. Self-inflicted tearing or wearing off of skin. C36281 Integumentary System Finding C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C35576 Mucocutaneous Candidiasis Mucocutaneous Candidiasis A fungal infection of the skin, nails, oral and vaginal mucosal sites caused by species of the genus Candida. It manifests with white discoloration of the tongue and swelling, redness, and tenderness of the nails. C26726 Infectious Disorder C3371 Skin Disorder C99147 Neonatal Research Network Terminology C C35729 Congenital Cardiovascular Abnormality Congenital Cardiovascular Abnormality Congenital Abnormality of the Circulatory System|Congenital Anomaly of Cardiovascular System A heart or vascular abnormality which is inborn or present at birth. C2931 Cardiovascular Disorder C2849 Congenital Malformation 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 C98888 Congenital Cataract Congenital Cataract Cataract that is present at birth. C26713 Cataract C2849 Congenital Malformation C99147 Neonatal Research Network Terminology C C98891 Congenital Chylothorax Congenital Chylothorax Chylothorax that is present at birth. C79546 Chylothorax C97173 Congenital Respiratory System Disorder 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 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. A congenital renal disorder characterized by dilatation and dysplasia of the medullary and papillary portions of the collecting ducts, usually resulting in the formation of medullary cysts and nephrocalcinosis. C34750 Cystic Kidney Disease C99147 Neonatal Research Network Terminology C 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. C34750 Cystic Kidney Disease C99147 Neonatal Research Network Terminology C C3718 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome 11p Partial Monosomy Syndrome A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities. A condition characterized by proteinuria associated with aniridia, genitourinary anomalies, mental retardation, and a predisposition for Wilms tumor; it is caused by a deletion of the region containing the WT1 and PAX6 genes on chromosome 11. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C C12326 Undescended Testes Undescended Testes Undescended Testicle|Undescended Testis The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. The failure of one or both testes to descend into the scrotum. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C C98917 Duplicated Ureter Duplicated Ureter Double Ureter|Duplex Collecting System A congenital abnormality characterized by the presence of two separate ureters draining a kidney. A condition in which there are two partial or complete ipsilateral ureters from a single kidney. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C C35337 Congenital Nephrotic Syndrome Congenital Nephrotic Syndrome A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis. Nephrotic syndrome occurring within the first three months of life. C98885 Congenital Urinary System Abnormality C34845 Nephrotic Syndrome C99147 Neonatal Research Network Terminology C C98661 Grade I Vesicoureteral Reflux Grade I Vesicoureteral Reflux Vesicoureteric Reflux, Grade I Vesicoureteral reflux in which there is urine reflux into the ureter only. Reflux that only fills the ureter without dilatation. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C C98662 Grade II Vesicoureteral Reflux Grade II Vesicoureteral Reflux Vesicoureteric Reflux, Grade II Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. There is no dilatation of the ureter and the calyces. Reflux that fills the ureter and collecting system without dilatation. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C C98663 Grade III Vesicoureteral Reflux Grade III Vesicoureteral Reflux Vesicoureteric Reflux, Grade III Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Mild dilatation of the ureter and the calyces is present. Reflux that fills and mildly dilates the ureter and collecting system with mild blunting of the calyces. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C C98664 Grade IV Vesicoureteral Reflux Grade IV Vesicoureteral Reflux Vesicoureteric Reflux, Grade IV Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Moderate dilatation of the ureter and the calyces is present. Reflux that fills and grossly dilates the ureter and collecting system with blunting of the calyces. Some tortuosity of the ureter is also present. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C C98665 Grade V Vesicoureteral Reflux Grade V Vesicoureteral Reflux Vesicoureteric Reflux, Grade V Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Severe tortuosity and dilatation of the ureter and the calyces are present. Massive reflux that grossly dilates the ureter and collecting system. All of the calyces are blunted with a loss of papillary impression, and intrarenal reflux may be present. There is significant ureteral dilation and tortuosity. C84467 Vesicoureteral Reflux C99147 Neonatal Research Network Terminology C C98947 Horseshoe Kidney Horseshoe Kidney A congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure. A renal anomaly characterized by fusion across the midline of two distinct and functional kidneys that are connected at the lower poles. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C C99005 Patent Urachus Patent Urachus A congenital abnormality that results from the failure of the lumen of urachus to be obliterated. It presents with leakage of urine from the bladder through the umbilicus. A persistent opening between the bladder and the umbilicus through the urachus. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C C99021 Posterior Urethral Valve Posterior Urethral Valve Congenital Posterior Urethral Valves A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction. Complete or partial blockage of the posterior portion of the urethra caused by obstructing leaflets. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C C101272 Spinal Cord Infarct During Birth Spinal Cord Infarct Related to Birth Spinal Cord Infarct during Birth Ischemic necrosis of the spinal cord due to spinal artery occlusion during the birthing process. Ischemic necrosis of the spinal cord due to spinal artery occlusion sustained during the birthing process. C101035 Birth Injury C99147 Neonatal Research Network Terminology C C101278 Spinal Injury Related to Birth Spinal Cord Injury Related to Birth Spinal Injury Related to Birth Trauma|Spinal Injury Related to Birth An injury to the spine sustained during the birthing process. An injury to the spinal cord occurring during labor and/or delivery. Injury may include compression, partial or complete disruption of the cord. C101035 Birth Injury C50750 Spinal Cord Injury C99147 Neonatal Research Network Terminology C C27560 Respiratory Distress Syndrome Respiratory Distress Syndrome Neonatal Respiratory Distress Syndrome|Neonatal Respiratory Distress|RDS|Respiratory Distress Syndrome in the Newborn A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange. Progressive alveolar atelectasis from birth due to an abnormality of synthesis, function or metabolism of surfactant, characterized by respiratory failure and an abnormal chest radiograph showing diffuse reticulogranular densities and air bronchograms. C97173 Congenital Respiratory System Disorder C99232 Neonatal Respiratory System Disorder C99147 Neonatal Research Network Terminology C C50501 Complete Atrioventricular Block Atrioventricular Block, Third Degree AV Block Third Degree|Complete Atrioventricular Block|Non-Congenital Complete Atrioventricular Block A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) Complete disassociation of the atrial electrical impulse conduction to the ventricles. C2881 Arrhythmia C99147 Neonatal Research Network Terminology C C83507 Respiratory Tract Aspiration Aspiration Respiratory Tract Aspiration Accidental inhalation of a foreign material into the lungs. The entry of foreign material past the larynx, and into the lower respiratory tract. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C C84641 Clubfoot Talipes Club Foot|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 C99147 Neonatal Research Network Terminology C C87118 Sacral Dimple Sacral Sinus Sacral Dimple|Sacral Pit A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area. A blind-ending, epithelial-lined tract that is located 5-25 mm from the anal verge. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C92770 Early Deceleration Early Fetal Heart Rate Deceleration Early Deceleration|Early Fetal Heart Deceleration A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs at the same time as the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs at the same time as the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C C92816 Intermittent Deceleration Intermittent Fetal Heart Rate Deceleration Intermittent Deceleration Fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe. Fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C C92822 Late Deceleration Late Fetal Heart Rate Deceleration Late Deceleration|Late Fetal Heart Deceleration A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs after the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs after the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C C92864 Prolonged Deceleration Prolonged Fetal Heart Rate Deceleration Finding of Prolonged Deceleration|Prolonged Deceleration A decrease in the fetal heart rate below baseline lasting 2 to less than 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute. A decrease in the fetal heart rate below baseline lasting 2 to less than 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C C92866 Recurrent Deceleration Recurrent Fetal Heart Rate Deceleration Recurrent Deceleration Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. Applies to early, late or variable decelerations. Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. Applies to early, late or variable decelerations. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C C92914 Variable Deceleration Variable Fetal Heart Rate Deceleration Finding of Variable Deceleration|Variable Deceleration An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to less than two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minute, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations. An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to less than two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minute, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations. C92789 Fetal Heart Deceleration C99147 Neonatal Research Network Terminology C C26737 Cyanosis Cyanosis Blue Spells A bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced concentration of oxygenated hemoglobin in the blood. A bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced concentration of oxygenated hemoglobin in the blood. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C50462 Aortic Valve Stenosis Aortic Valve Stenosis Narrowing of the orifice of the aortic valve. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C C81232 Bayley Scale of Infant Development I Bayley Scale of Infant Development I Bayley Scale of Infant Development|Bayley Scales of Infant Development The first edition of a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavorial Examination C99147 Neonatal Research Network Terminology C C87128 Loose Stool Loose Stool Liquid Stool|Watery Stool Frequent, loose, and watery stools are noted in most infants, even if they are fed formula, until they are six to eight weeks old; after that, the stools become firmer and less frequent. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C90599 Bronchopulmonary Dysplasia Bronchopulmonary Dysplasia BPD 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. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C98919 Ear Tag Ear Tag Periauricular Tag A small preauricular skin tag. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C99111 Heparin Induced Thrombocytopenia Heparin-Induced Thrombocytopenia Heparin Induced Thrombocytopenia A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. A substantial decrease in the platelet count associated with heparin therapy. C99110 Drug-Induced Thrombocytopenia C99147 Neonatal Research Network Terminology C C99255 Neonatal Opiate Withdrawal Syndrome Neonatal Opiate Withdrawal Syndrome Neonatal Opioid Withdrawal Syndrome A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids. A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids. C101321 Neonatal Drug Withdrawal C99147 Neonatal Research Network Terminology C C101024 Colon Atresia Colon Atresia Congenital Atresia of Colon A congenital malformation characterized by the absence of a normal opening in a part of the colon. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C101025 Duodenal Atresia Duodenal Atresia Congenital Atresia of Duodenum A congenital malformation characterized by the absence of a normal opening in a part of the duodenum. C98828 Small Intestine Atresia C99147 Neonatal Research Network Terminology C C101026 Ileal Atresia Ileal Atresia Congenital Atresia of Ileum A congenital malformation characterized by the absence of a normal opening in a part of the ileum. C98828 Small Intestine Atresia C99147 Neonatal Research Network Terminology C C101027 Jejunal Atresia Jejunal Atresia Congenital Atresia of Jejunum A congenital malformation characterized by the absence of a normal opening in a part of the jejunum. C98828 Small Intestine Atresia C99147 Neonatal Research Network Terminology C C101029 Atrioventricular Septal Defect Common Atrioventricular Canal A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves. C84482 Congenital Septal Defect C99147 Neonatal Research Network Terminology C C101033 Functional Bowel Obstruction Functional Intestinal Obstruction Intestinal Obstruction, Functional The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular. C9175 Bowel Obstruction C99147 Neonatal Research Network Terminology C C101041 Short Segment Hirschsprung Disease Short Segment Hirschsprung's Disease The most common form of Hirschsprung Disease, this is characterized by a lack of nerve cells in the sigmoid colon and rectum. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary. C34700 Hirschsprung Disease C99147 Neonatal Research Network Terminology C C101042 Steroid 21-Monooxygenase Deficiency Steroid 21-Monooxygenase Deficiency Less than necessary amount of the enzyme steroid 21-monooxygenase; which is necessary to synthesize cortisol. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C C101043 Methemoglobin Reductase Deficiency Methemoglobin Reductase Deficiency Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin. C3492 Enzyme Deficiency 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 Congenital Septal Defect C99147 Neonatal Research Network Terminology C C101074 Total Intestinal Aganglionosis Total Intestinal Aganglionosis A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease. C34700 Hirschsprung Disease C99147 Neonatal Research Network Terminology C C101185 Dextro-Transposition of the Great Vessels with Intact Ventricular Septum Dextro-Transposition of the Great Vessels with Intact Ventricular Septum D-Transposition of the Great Vessels with Intact Ventricular Septum A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles. C99096 Dextro-Transposition of the Great Arteries C99147 Neonatal Research Network Terminology C C101186 Dextro-Transposition of the Great Vessels with Ventricular Septal Defect Dextro-Transposition of the Great Vessels with Ventricular Septal Defect D-Transposition of the Great Vessels with Ventricular Septal Defect A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with a pathologic opening between the cardiac ventricles. C99096 Dextro-Transposition of the Great Arteries C99147 Neonatal Research Network Terminology C C101199 Congenital Phrenic Nerve Palsy Congenital Phrenic Nerve Palsy Phrenic Nerve Palsy, Congenital Damage to the phrenic nerve that results in paralysis of the hemidiaphragm at birth. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 that has occurred before birth. C97172 Congenital Nervous System Disorder C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C C101202 Cervical Myelomeningocele Cervical Myelomeningocele Cervical Meningomyelocele A congenital abnormality in the cervical region of the spine in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Spina Bifida Cystica C99147 Neonatal Research Network Terminology C C101203 Lumbar Myelomeningocele Lumbar Myelomeningocele Lumbar Meningomyelocele A congenital abnormality in the lumbar region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Spina Bifida Cystica C99147 Neonatal Research Network Terminology C C101207 Sacral Myelomeningocele Sacral Myelomeningocele Congenital Sacral Meningocele A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Spina Bifida Cystica C99147 Neonatal Research Network Terminology C C101208 Thoracic Myelomeningocele Thoracic Myelomeningocele Thoracic Meningomyelocele A congenital abnormality in the thoracic region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Spina Bifida Cystica C99147 Neonatal Research Network Terminology C C101210 Cervical Meningocele Cervical Meningocele A congenital abnormality in the cervical region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C99147 Neonatal Research Network Terminology C C101211 Lumbar Meningocele Lumbar Meningocele A congenital abnormality in the lumbar region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C99147 Neonatal Research Network Terminology C C101212 Sacral Meningocele Sacral Meningocele A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C99147 Neonatal Research Network Terminology C C101213 Thoracic Meningocele Thoracic Meningocele A congenital abnormality in the thoracic region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C99147 Neonatal Research Network Terminology C C101222 Complete Trisomy 21 Syndrome Complete Trisomy 21 Syndrome A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C C101223 Complete Trisomy 13 Syndrome Complete Trisomy 13 Syndrome A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C C101268 Bilateral Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Bilateral Hypoplasia of the Optic Nerve|Hypoplasia of the Optic Nerve, Bilateral A congenital abnormality characterized by the underdevelopment of both optic nerves. C98999 Optic Nerve Hypoplasia C99147 Neonatal Research Network Terminology C C101269 Unilateral Optic Nerve Hypoplasia Unilateral Optic Nerve Hypoplasia Hypoplasia of the Optic Nerve, Unilateral|Unilateral Hypoplasia of the Optic Nerve A congenital abnormality characterized by the underdevelopment of one optic nerve. C98999 Optic Nerve Hypoplasia C99147 Neonatal Research Network Terminology C C101279 Laryngeal Agenesis Laryngeal Agenesis Agenesis of Larynx A congenital deformity in which there is no laryngeal structure. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C101313 Bilateral Renal Dysplasia Bilateral Renal Dysplasia A finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. Bilateral renal dysplasia is a congenital malformation in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. C3847 Renal Cell Dysplasia C99147 Neonatal Research Network Terminology C C101316 Facial Nerve Palsy Related to Trauma Facial Nerve Palsy Related to Trauma Facial Nerve Palsy due to Trauma Partial or complete paralysis of the facial muscles of one side of an individual's face that is caused by trauma. C26769 Facial Nerve Palsy C99147 Neonatal Research Network Terminology C C101325 Heterotaxy Syndrome with Polysplenia Heterotaxy Syndrome with Polysplenia Heterotaxy, Polysplenia A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this manifestation of the disorder presents with many accessory spleens instead of one. C87083 Heterotaxy 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 C101327 Pericardial Anomaly Pericardial Anomaly Any abnormality involving the pericardium. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C C101362 Complete Trisomy 18 Syndrome Complete Trisomy 18 Syndrome A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. Characteristics include profound mental retardation and severe malformations. Individuals with this syndrome rarely live past one year. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C C102979 Congenital Hydronephrosis Congenital Hydronephrosis Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C C102984 Congenital Ileal Stenosis Congenital Ileal Stenosis Narrowing of the lumen of the ileum that is present at birth. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C102985 Congenital Jejunal Stenosis Congenital Jejunal Stenosis Narrowing of the lumen of the jejunum that is present at birth. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C103170 Postnatal Drug Withdrawal Postnatal Drug Withdrawal Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother. C89328 Pediatric Disorder C35046 Drug Withdrawal C99147 Neonatal Research Network Terminology C C103185 Congenital Reproductive System Abnormality Congenital Reproductive System Abnormality Congenital Abnormality of the Reproductive System A disorder that affects the female or male reproductive system and is present at birth. Representative examples include ovarian agenesis, vaginal agenesis, and penile agenesis. C35107 Congenital Genitourinary Abnormality C4875 Reproductive System Disorder C99147 Neonatal Research Network Terminology C C103186 Sexual Differentiation Disorder Sexual Differentiation Disorder Disorder of Sexual Differentiation A congenital disorder characterized by abnormalities in the development of the sexual characteristics. C103185 Congenital Reproductive System Abnormality C89330 Developmental Disorder C99147 Neonatal Research Network Terminology C C103266 Congenital Aortic Arch Hypoplasia Congenital Aortic Arch Hypoplasia Congenital Hypoplasia of Aortic Arch An underdeveloped aortic arch that is present at birth. This symptom is usually found in association with other cardiac defects that characterize left heart syndrome. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C 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 Vessels Abnormality C99147 Neonatal Research Network Terminology C C103921 Lissencephaly Lissencephaly A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms. A brain malformation characterized by smooth folds and grooves in the brain. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C103922 Congenital Hydroureter Congenital Hydroureter Dilatation of the ureter caused by obstruction of urine flow that is present at birth. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C 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 Enzyme Deficiency C99147 Neonatal Research Network Terminology C C110938 Tachyarrhythmia Tachyarrhythmia A disorder characterized by an arrhythmia with an above normal rate. Tachyarrhythmia is any disturbance of the heart rhythm in which the heart rate is abnormally increased. C2881 Arrhythmia C99147 Neonatal Research Network Terminology C C110942 Congenital Anomaly of Pulmonary Veins Congenital Anomaly of Pulmonary Veins Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C C12264 Meckel Diverticulum Meckel's Diverticulum A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C25738 Infarction Infarct A localized pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C C26698 Apnea Apnea Transient cessation of respiration. Cessation of air flow. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C26774 Femur Fracture Femur Fracture Fracture of Femur A traumatic or pathologic injury to the femur in which the continuity of the femur is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C C26795 Humerus Fracture Humerus Fracture Fracture of Humerus A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C C26900 Turner Syndrome Turner Syndrome A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C C26924 Ventricular Arrhythmia Ventricular Arrhythmia A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles. C2881 Arrhythmia C99147 Neonatal Research Network Terminology C C26938 Fibula Fracture Fibula Fracture Fracture of Fibula A traumatic or pathologic injury to the femur in which the continuity of the fibula is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C C27088 Hyperbilirubinemia Hyperbilirubinemia Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. Abnormally high level of bilirubin in the blood. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C27158 Supraventricular Arrhythmia by ECG Finding Supraventricular Arrhythmia An electrocardiographic finding of an arrhythmia originating in the atrium, AV node or AV junction. C2881 Arrhythmia C99147 Neonatal Research Network Terminology C C27580 Peripheral Nervous System Disorder Peripheral Nervous System Disorder Disorder of Peripheral Nervous System|Peripheral Nerve Disease A non-neoplastic or neoplastic disorder that affects the peripheral nervous system. C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C C27996 Myocardial Infarction Myocardial Infarction Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. Necrosis of the myocardium, as a result of interruption of the blood supply to the area. C3079 Heart Disorder C25738 Infarct C99147 Neonatal Research Network Terminology C C2869 Anemia Anemia A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. Abnormally low level of red blood cells and/or hemoglobin in the blood. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C C2885 Ascites Ascites The accumulation of fluid in the peritoneal cavity, which may be serous, hemorrhagic, or the result of tumor metastasis to the peritoneum. The accumulation of fluid in the peritoneal cavity, which may be serous, hemorrhagic, or the result of tumor metastasis to the peritoneum. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C2934 Central Nervous System Disorder Central Nervous System Disorder Disorder of Central Nervous System A non-neoplastic or neoplastic disorder which affects the brain and/or spinal cord. C26835 Nervous System Disorder 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 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C C3002 Edema Edema Accumulation of an excessive amount of fluid in cells or intercellular tissues. Accumulation of an excessive amount of fluid in cells or intercellular tissues. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C3059 Glioma Glioma A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. C9305 Cancer C99147 Neonatal Research Network Terminology C C3080 Congestive Heart Failure Congestive Heart Failure Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C C3128 Hypotension Hypotension Low Blood Pressure Blood pressure that is abnormally low. Abnormally low blood pressure, which is usually symptomatic. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C 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 C99147 Neonatal Research Network Terminology C C3222 Medulloblastoma Medulloblastoma A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity. A rapidly progressive cancer of the brain that originates in the cerebellum. C9305 Cancer C99147 Neonatal Research Network Terminology C C32221 Body Part Body Part Body Structure Any part of an organism. C12219 Anatomic Structure, System, or Substance C99147 Neonatal Research Network Terminology C C3270 Neuroblastoma Neuroblastoma A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation. A malignant neoplasm comprised of neuroblasts that commonly arises in or near the adrenal glands. C9305 Cancer C99147 Neonatal Research Network Terminology C C3310 Paralysis Paralysis Paralytic Syndrome Partial or complete loss of function of one or more muscles. It is usually caused by damage to the nervous system. C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C C3336 Polycythemia Vera Polycythemia Vera A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. The bone marrow is hypercellular due to a panmyelotic proliferation typically characterized by pleomorphic megakaryocytes. The major symptoms are related to hypertension, splenomegaly or to episodes of thrombosis and/or hemorrhage. C9305 Cancer 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 C3376 Sleep Disorder Sleep Disorder A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. C26835 Nervous System Disorder C99147 Neonatal Research Network Terminology C C3408 Thrombocytopenia Thrombocytopenia Thrombocytopenic Disorder A condition in which there is an abnormally small number of platelets in the circulating blood. Abnormally low level of platelets in the blood. C26323 Hematologic Disorder C36292 Laboratory Test Result C99147 Neonatal Research Network Terminology C C3424 Tuberous Sclerosis Tuberous Sclerosis Tuberous Sclerosis Syndrome Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. C84348 Phakomatosis 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 C34360 Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia Adrenogenital Disorder A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. C2849 Congenital Malformation C99147 Neonatal Research Network Terminology C C34421 Biliary Atresia Biliary Atresia Congenital Biliary Atresia A congenital disorder characterized by blockage or absence of the intrahepatic or extrahepatic bile ducts. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C34491 Clubbing of Fingers Clubbing of Fingers Finger Clubbing An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C34518 Cri du Chat Syndrome Cri du Chat Syndrome 5p Partial Monosomy Syndrome|Cri-du-Chat Syndrome A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C C34700 Hirschsprung Disease Hirschsprung Disease Hirschsprung's Disease A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C34752 Klinefelter Syndrome Klinefelter Syndrome Klinefelter's Syndrome, XXY A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. C2950 Chromosomal Abnormality 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 C99147 Neonatal Research Network Terminology C C34830 Cardiomyopathy Cardiomyopathy A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. A disease of the heart muscle. C3079 Heart Disorder C101216 Myopathy C99147 Neonatal Research Network Terminology C 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. 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 C C34990 Rib Fracture Rib Fracture Fracture of Rib A traumatic or pathologic injury to the rib in which the continuity of the rib is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C C35095 Perinatal Disorder Perinatal Disorder A non-neoplastic or neoplastic disorder occurring during the period from about five months before birth to one month after birth. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C C35376 Tracheal Agenesis Tracheal Agenesis Congenital Absence of Trachea Congenital absence of the trachea. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C35530 Thrombocytosis Thrombocytosis A hematology test result that indicates the presence of higher than normal platelet counts in the peripheral blood. Abnormally high level of platelets in the blood. C26323 Hematologic Disorder C36292 Laboratory Test Result C99147 Neonatal Research Network Terminology C C35754 Tracheal Atresia Tracheal Atresia Congenital Atresia of Trachea A rare, fatal congenital malformation in which the trachea is severely underdeveloped. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C3728 Hepatoblastoma Hepatoblastoma A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well. A malignant neoplasm of embryonal origin arising within the liver C9305 Cancer C99147 Neonatal Research Network Terminology C C38038 Tremor Tremor The shaking movement of the whole body or just a certain part of it, often caused by problems of the neurons responsible for muscle action. Unintentional trembling or shaking of one or more body parts. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C3890 Hypoxia Hypoxia A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). A condition in which there is low oxygen in the tissues. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C C40407 Kidney Wilms Tumor Nephroblastoma An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. C9305 Cancer C99147 Neonatal Research Network Terminology C C40425 Congenital Hamartoma Congenital Hamartoma A hamartomatous lesion which is present at birth. A benign tumor-like nodule composed of an overgrowth of mature cells and tissues which is present at birth. C2849 Congenital Malformation C99147 Neonatal Research Network Terminology C C40460 Cafe Au Lait Spot Cafe Au Lait Spot A light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome. C3371 Skin Disorder C99147 Neonatal Research Network Terminology C C45525 Valvular Heart Disorder Valvular Heart Disorder Disorder of Heart Valve|Heart Valve Disorder Any heart disorder characterized by a defect in valve structure or function. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C C47814 Vocal Cord Paralysis Vocal Cord Paralysis Vocal Cord Palsy Paralysis of the muscles of one or both vocal cords. Signs and symptoms include hoarseness, weak voice, dyspnea, and coughing. Affected individuals are at risk for aspiration pneumonia. Nerve injury that results in inability to move the vocal cords. C26835 Nervous System Disorder C118420 Otolaryngologic Disorder C99147 Neonatal Research Network Terminology C C49676 Pulse Rate Pulse Rate The rate of the pulse as observed in an artery, expressed as beats per minute. It can be measured at several anatomical sites, including the wrist, neck, temple, groin, behind the knees, or on top of the foot. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C C49677 Heart Rate Heart Rate The number of heartbeats per unit of time, usually expressed as beats per minute. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C C49678 Respiratory Rate Respiratory Rate The rate of breathing (inhalation and exhalation) measured within in a unit time, usually expressed as breaths per minute. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C C5039 Motor Manifestations Motor Manifestations The presence of an alteration in the ability to move one's body or any body parts in accordance with one's intent. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C50654 Mitral Valve Stenosis Mitral Valve Stenosis Narrowing of the left atrioventricular mitral orifice. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C C50685 Pallor Pallor An unusual or extreme paleness, state of decreased skin or mucosal coloration. A condition characterized by an abnormal loss of color to the skin or mucous membranes due to reduced delivery of saturated hemoglobin. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C50715 Pulmonary Stenosis Pulmonary Stenosis Pulmonic Valve Stenosis Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets. C45525 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C C50745 Skull Fracture Skull Fracture Fracture of Skull A traumatic or pathologic injury to the bones of the skull in which the continuity of the bones of the skull is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C C50783 Tricuspid Valve Stenosis Tricuspid Valve Stenosis Narrowing or stricture of the tricuspid orifice of the heart. C45525 Valvular Heart Disorder 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 Valvular Heart Disorder 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 Valvular Heart 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 Valvular Heart Disorder C99147 Neonatal Research Network Terminology C C61254 Krabbe Disease Krabbe Disease Galactosylceramide Beta-Galactosidase Deficiency A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C C61454 Basilar Rales Basilar Rales Basal Crepitations Abnormal breath sounds (crackles) heard on auscultation only in the bases of the lungs. They indicate inflammation, fluid, or infection in the air sacs of the lung. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C6727 Neurofibromatosis Neurofibromatosis Neurofibromatosis Syndrome An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas. C84348 Phakomatosis C99147 Neonatal Research Network Terminology C C68677 von Willebrand Disease von Willebrand Disease von Willebrand Disorder Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. C27215 Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C C74732 Alpha-fetoprotein Measurement Alpha-fetoprotein Measurement Alpha-1-Fetoprotein Measurement The determination of the amount of alpha-fetoprotein present in a sample. C49286 Hematology Test C99147 Neonatal Research Network Terminology C C74988 Holoprosencephaly Holoprosencephaly Holoprosencephaly Sequence A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C7541 Retinoblastoma Retinoblastoma A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. A malignant tumor of the eye comprised of immature retinal cells. C9305 Cancer C99147 Neonatal Research Network Terminology C C78245 Cardiac Conduction Disorder Cardiac Conduction Disorder Disorder of Cardiac Conduction A disorder affecting the conduction system that sends electrical signals in the myocardium. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C C78355 Ileal Perforation Ileal Perforation Perforation of Ileum A rupture in the ileal wall due to traumatic or a pathologic processes. C39611 Intestinal Perforation C99147 Neonatal Research Network Terminology C C78718 Wheezing Wheezing A symptom and a finding during physical examination, characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways. The most common causes of wheezing are asthma, chronic obstructive pulmonary disease, tracheobronchitis, and pulmonary edema. A high-pitched breath sound resulting from a narrowing or obstruction of the small airways. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C78743 Meconium Meconium The newborn's first intestinal discharge. It is a dark-green, thick substance composed of mucus, intestinal secretions, hair, and intestinal mucosa cells. C13236 Body Fluid or Substance C99147 Neonatal Research Network Terminology C C81183 Amino Acid Measurement Amino Acid Measurement Measurement of Amino Acid The measurement of the amount of amino acids in a biologic specimen. C49286 Hematology Test C99147 Neonatal Research Network Terminology C C81235 Behavioral Rating Scale Behavioral Rating Scale Behavior Rating Scale A range of values designed to quantify the qualitative responses of an individual to a set of challenges. C81314 Newborn Behavorial Examination C99147 Neonatal Research Network Terminology C C81252 Gesell Developmental Schedule Gesell Developmental Schedule A scale used as an instrument to assess a child's motor and language development, as well as personal-social and adaptive behaviors. C81314 Newborn Behavorial Examination 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 Behavorial Examination C99147 Neonatal Research Network Terminology C C81264 Mental Scale Mental Scale A range of values that characterizes an individual's mental development. C81314 Newborn Behavorial Examination C99147 Neonatal Research Network Terminology C C81309 Heart Rate Score Heart Rate Score A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C C84348 Phakomatosis Phakomatosis Neurocutaneous Syndrome A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C84473 Atrial Septal Defect Atrial Septal Defect The presence of a defect (opening) in the septum that separates the two atria of the heart. It can be congenital or acquired. The presence of a defect (opening) in the septum that separates the two atria of the heart. It can be congenital or acquired. C84482 Congenital Septal Defect C99147 Neonatal Research Network Terminology C C84480 Heart Murmur Heart Murmur A periodic humming or blowing sound heard on auscultation of the heart that can indicate the presence of cardiac disease; murmurs are the result of vibrations caused by the turbulent flow of blood in the heart or great vessels. Murmurs are characterized according to the area of generation (mitral, aortic, tricuspid, or pulmonary) and according to the period of the cycle (systolic or diastolic). C35552 Cardiovascular System Finding C99147 Neonatal Research Network Terminology C C84506 Ventricular Septal Defect Ventricular Septal Defect The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. The presence of a defect (opening) in the septum that separates the two ventricles of the heart. The VSD can be congenital or acquired. C84482 Congenital Septal Defect C99147 Neonatal Research Network Terminology C C84524 5' 10' Methylenetetrahydrofolate Reductase Deficiency 5,10-Methylenetetrahydrofolate Reductase Deficiency A rare disorder associated with mental retardation, spasticity, and early death. 5,10-Methylenetetrahydrofolate reductase deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84537 Long-Chain Acyl-CoA Dehydrogenase Deficiency Long-Chain Acyl-CoA Dehydrogenase Deficiency LCAD|Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. C3492 Enzyme Deficiency C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency Medium-Chain Acyl-CoA Dehydrogenase Deficiency MCAD|Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84543 Albinism Albinism A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin. C97174 Congenital Skin Disorder C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84552 Amniotic Band Syndrome Amniotic Band Syndrome Deformity due to Amniotic Band A rare congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. It may result in the formation of constriction rings around the digits and upper and lower extremities, swelling of the extremities and congenital amputations. A congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. C2849 Congenital Malformation C99147 Neonatal Research Network Terminology C C84560 Anencephaly Anencephaly Anencephalus A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C84567 Aortic Coarctation Coarctation of Aorta Aortic Coarctation Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C C84569 Argininosuccinic Aciduria Argininosuccinic Aciduria Argininosuccinate Lyase Deficiency A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C84570 Arnold-Chiari Malformation Arnold-Chiari Malformation (Arnold) Chiari Malformation|Chiari Malformation A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C84598 Biotinidase Deficiency Biotinidase Deficiency A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C 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 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 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 Malformation C99147 Neonatal Research Network Terminology C C84725 Gastroschisis Gastroschisis A congenital birth defect characterized by the exposure of the fetal intestines outside the abdominal wall through an abdominal wall opening. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C84742 Transposition of Great Vessels Transposition of Great Vessels A congenital cardiac defect in which two heart vessels are reversed (transposed). C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C 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 Skin Disorder C99147 Neonatal Research Network Terminology C C84784 Imperforate Anus Imperforate Anus Anal Atresia A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. C97171 Congenital Gastrointestinal 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 C84923 Neural Tube Defect Neural Tube Defect A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. C97172 Congenital 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 Enzyme Deficiency C99147 Neonatal Research Network Terminology C C85063 Septo-Optic Dysplasia Septo-Optic Dysplasia Septo-Optic Dysplasia Sequence A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism. C98999 Optic Nerve Hypoplasia C99147 Neonatal Research Network Terminology C C85075 Spinal Muscular Atrophy Spinal Muscular Atrophy An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements. C97172 Congenital Nervous 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 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 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C C85221 Vitamin B6 Deficiency Vitamin B6 Deficiency Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. C35772 Vitamin Deficiency Disorder C99147 Neonatal Research Network Terminology C C87070 Hypotonia Hypotonia Poor Muscle Tone A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching. Abnormally low muscle tone. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C87071 Ear Dimple Ear Dimple Ear Pit|Periauricular Dimple A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C87072 Esophageal Atresia Esophageal Atresia Congenital Atresia of Esophagus A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C87085 Hypertonia Hypertonia Increased Muscle Tone A condition of increased muscle tone manifested by increased resistance of the muscle to passive stretching. Abnormally high muscle tone. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C87087 Intercostal Retractions Intercostal Retractions Intercostal Recession The marked inward movement of the muscles between the ribs during inhalation, indicating that there is reduced pressure in the thoracic cavity, and which can be a sign of breathing difficulties. The marked inward movement of the muscles between the ribs during inhalation, indicating that there is reduced pressure in the thoracic cavity, and which can be a sign of breathing difficulties. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C87089 Irregular Respiration Irregular Respiration Irregular Breathing A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C87093 Meconium Aspiration Syndrome Meconium Aspiration Syndrome A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. Aspiration of meconium around the time of delivery resulting in severe respiratory distress. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C87101 Neonatal Abstinence Syndrome Neonatal Abstinence Syndrome NAS A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. C101321 Neonatal Drug Withdrawal C99147 Neonatal Research Network Terminology C C87116 Rhonchi Rhonchi An abnormal sound similar to snoring heard on auscultation of the bronchial airways, suggesting a partial obstruction due to thick secretions, a muscular spasm, or a neoplasm. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C87120 Single Palmar Crease Single Palmar Crease Single Transverse Palmar Crease A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome. C100104 Sign or Symptom 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 Skin Disorder C99147 Neonatal Research Network Terminology C C87169 High Pitched Cry High Pitched Cry An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes. An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C88541 Hemihypertrophy Hemihypertrophy Hemi-hypertrophy A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it. C2849 Congenital Malformation C99147 Neonatal Research Network Terminology C C89330 Developmental Disorder Developmental Disorder A disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones. C89328 Pediatric Disorder 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 Malformation C107377 Musculoskeletal System Disorder C99147 Neonatal Research Network Terminology C C9118 Sarcoma Sarcoma A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. C9305 Cancer C99147 Neonatal Research Network Terminology C C92719 Fetal Disorder Fetal Disorder Disorder of Fetus A non-neoplastic or neoplastic disorder which occurs in the fetus. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C C92744 Blood Glucose Measurement Blood Glucose Measurement Glucose Measurement, Blood A quantitative measurement for assessing the amount of glucose present in a blood sample. C49286 Hematology Test C99147 Neonatal Research Network Terminology C C97124 Bronchopulmonary Sequestration Bronchopulmonary Sequestration Congenital Sequestration of Lung|Sequestered Lobe (Pulmonary Sequestration) A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C C97173 Congenital Respiratory System Disorder Congenital Respiratory System Disorder Congenital Abnormality of the Respiratory System An abnormality of the respiratory system that is present at birth or detected in the neonatal period. C2849 Congenital Malformation C26871 Respiratory System Disorder C99147 Neonatal Research Network Terminology C C98585 Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C C98602 TORCH Antibody Measurement TORCH Antibody Measurement Toxoplasmosis, Other Infections, Rubella, Cytomegalovirus, and Herpes Simplex Virus (TORCH) Antibody Panel Measurement A group of blood tests used to detect antibodies to Toxoplasma gondii, rubella, cytomegalovirus, and herpes simplex virus to rule out congenital infections. A group of other infections may be tested as well, including varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. C49286 Hematology Test C99147 Neonatal Research Network Terminology C C98622 Larnygeotracheoesophageal Cleft Larnygeotracheoesophageal Cleft Congenital Cleft Larynx|Tracheal Cleft A rare congenital abnormality in the laryngo-tracheal wall. It results from the incomplete development of the tracheoesophageal septum. Signs and symptoms include coughing, cyanosis, repeated pulmonary infections, and failure to gain weight. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C98647 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Very Long-Chain Acyl-CoA Dehydrogenase Deficiency VLCAD|Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. C3492 Enzyme Deficiency C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C C98674 Methylcrotonyl-CoA Carboxylase Deficiency Methylcrotonyl-CoA Carboxylase Deficiency An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98699 5 Alpha Steroid Reductase 2 Deficiency 5 Alpha Steroid Reductase 2 Deficiency 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98809 Alveolar Capillary Dysplasia Alveolar Capillary Dysplasia A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C C98810 Ambiguous Genitalia Ambiguous Genitalia A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia. External genitalia that are not completely consistent with the genetic sex. C103185 Congenital Reproductive System Abnormality C99147 Neonatal Research Network Terminology C C98813 Annular Pancreas Annular Pancreas A rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance. C97171 Congenital Gastrointestinal 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 Malformation C26767 Eye Disorder C99147 Neonatal Research Network Terminology C C98822 Aplasia Cutis Congenita Aplasia Cutis Congenita Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation. C97174 Congenital Skin Disorder C99147 Neonatal Research Network Terminology C C98824 Aprosencephaly Aprosencephaly A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C98827 Large Intestine Atresia Large Intestine Atresia Atresia of Large Intestine A malformation characterized by the absence of a normal opening in a part of the large intestine. C97171 Congenital Gastrointestinal 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 Enzyme Deficiency C99147 Neonatal Research Network Terminology C C98863 Butyryl-CoA Dehydrogenase Deficiency Butyryl-CoA Dehydrogenase Deficiency A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C C98871 Carnitine Palmitoyltransferase I Deficiency Carnitine Palmitoyltransferase I Deficiency A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C C98876 Congenital Hydrocephalus Congenital Hydrocephalus Hydrocephalus that is present at birth. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that is present at birth. C97172 Congenital Nervous System Disorder C3111 Hydrocephalus C99147 Neonatal Research Network Terminology C C98882 Congenital Lung Malformation Congenital Lung Malformation Congenital Abnormality of Lung A malformation in the lung that is present at birth. Representative examples include pulmonary hypoplasia, pulmonary agenesis, congenital lobar emphysema, and alveolar capillary dysplasia. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C98885 Congenital Urinary System Abnormality Congenital Urinary System Abnormality Congenital Abnormality of the Urinary System An abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra. C35107 Congenital Genitourinary Abnormality C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C C98886 Congenital Vena Cava Abnormality Congenital Vena Cava Abnormality Congenital Abnormality of Vena Cava An abnormality of the superior or inferior vena cava that is present at birth. Representative examples include persistent left superior vena cava, absence of infrarenal inferior vena cava, or absence of the entire inferior vena cava. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C C98890 Congenital Cerebellar Hypoplasia Congenital Cerebellar Hypoplasia Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C98892 Congenital Cystic Adenomatoid Malformation of the Lung Congenital Cystic Adenomatoid Malformation of Lung A congenital malformation that is present in the lungs of the newborn. It is characterized by a spectrum of lesions that range from single or multiple cysts to bulky overgrowth of bronchiole-like structures. Signs and symptoms include respiratory distress, recurrent pulmonary infections, dyspnea, and failure to thrive. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C C98895 Congenital Lobar Emphysema Congenital Lobar Emphysema A rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C C98905 Corpus Callosum Agenesis Corpus Callosum Agenesis Agenesis of Corpus Callosum A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. C97172 Congenital Nervous System 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 Malformation C26767 Eye Disorder C99147 Neonatal Research Network Terminology C C98910 Cytochrome-C Oxidase Deficiency Cytochrome-C Oxidase Deficiency A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C C98913 Diastematomyelia Diastematomyelia A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C98915 Duplex Kidney Duplex Kidney Double Kidney|Double Renal Pelvis A congenital abnormality of the kidney characterized by the presence of two separate pelvicocaliceal systems with a single or duplex ureter. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C C98922 Endocardial Fibroelastosis Endocardial Fibroelastosis A rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure. C3079 Heart Disorder C99147 Neonatal Research Network Terminology C C98924 Esophageal Duplication Esophageal Duplication Congenital Duplication of Esophagus A congenital abnormality characterized by the presence of a duplicated segment of the esophagus. The duplicated segment may by tubular or cystic. C97171 Congenital Gastrointestinal Disorder 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 Enzyme Deficiency 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 C98946 High Molecular Weight Kininogen Deficiency High Molecular Weight Kininogen Deficiency A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. C27215 Coagulation Factor Deficiency C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C C98948 Congenital H-type Tracheoesophageal Fistula Congenital H-type Tracheoesophageal Fistula Congenital tracheoesophageal fistula without esophageal atresia. C97171 Congenital Gastrointestinal Disorder C35080 Tracheoesophageal Fistula C99147 Neonatal Research Network Terminology C C98949 Hydranencephaly Hydranencephaly A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C98958 Interrupted Aortic Arch Interrupted Aortic Arch A rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C C98960 Intestinal Duplication Intestinal Duplication Congenital Duplication of Intestine|Duplication of Bowel A rare congenital abnormality characterized by the presence of a duplicated segment of the intestine. The duplicated segment is cystic. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C98961 Intestinal Malrotation Intestinal Malrotation Congenital Malrotation of Intestine A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C98970 Laryngeal Web Laryngeal Web Tissue that develops between the vocal cords. C45233 Respiratory System Finding C99147 Neonatal Research Network Terminology C C98971 Laryngomalacia Laryngomalacia Increased collapsibility of the larynx. An abnormality characterized by softening of the laryngeal cartilage typically presenting with stridor. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C98972 Laryngeal Atresia Laryngeal Atresia Congenital Atresia of Larynx A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. Laryngeal atresia is a congenital failure of the laryngeal opening to develop, resulting in partial or total obstruction at or just above or below the glottis. C97173 Congenital Respiratory System Disorder C99147 Neonatal Research Network Terminology C C98975 Low Anorectal Malformation Low Anorectal Malformation Congenital malformations in the anorectal region that include the perineal fistula, anteriorly placed anus, and anorecto-vestibular fistula. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C98987 Microcolon Microcolon A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C98988 Microgyria Microgyria A congenital abnormality characterized by the presence of abnormally small convolutions in the brain. It results in mental retardation. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C98989 Microphthalmos Microphthalmos A congenital abnormality characterized by the presence of an abnormally small eye globe. C2849 Congenital Malformation C26767 Eye Disorder C99147 Neonatal Research Network Terminology C C98993 Monosomy 13q Syndrome Monosomy 13q Syndrome A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation. C2950 Chromosomal Abnormality C99147 Neonatal Research Network Terminology C C98994 NADH Dehydrogenase Deficiency NADH Dehydrogenase Deficiency NADH Dehydrogenase (Ubiquinone) Deficiency|NADH-CoQ Reductase (Complex I) Deficiency A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy. C3492 Enzyme Deficiency C99147 Neonatal Research Network Terminology C C98996 Neonatal Disorder Neonatal Disorder A non-neoplastic or neoplastic disorder which occurs during the neonatal period. An abnormal condition that occurs during the 28 days following birth. C89328 Pediatric Disorder C99147 Neonatal Research Network Terminology C C98999 Optic Nerve Hypoplasia Optic Nerve Hypoplasia Hypoplasia of the Optic Nerve A congenital abnormality characterized by the underdevelopment of the optic nerve. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C99006 Pelvic Kidney Pelvic Kidney Congenital Pelvic Kidney A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis. C98885 Congenital Urinary System Abnormality C99147 Neonatal Research Network Terminology C C99009 Penile Agenesis Penile Agenesis Aphallus|Congenital Absence of Penis An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C C99010 Penoscrotal Transposition Penoscrotal Transposition Congenital Penoscrotal Transposition A rare congenital abnormality characterized by the partial or complete transposition of the penis and scrotum. In cases of complete penoscrotal transposition, the scrotum is positioned anteriorly and above the penis. It may be associated with other congenital abnormalities. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C99147 Neonatal Research Network Terminology C C99015 Phosphoenolpyruvate Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase (GTP) Deficiency A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly. C3492 Enzyme Deficiency C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C99018 Plethoric Face Plethoric Face A finding that refers to a person with erythematous face. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C99019 Pneumopericardium Pneumopericardium The presence of air in the pericardial cavity. Causes include chest injury in adults, and respiratory distress syndrome in infants. C100104 Sign or Symptom C99147 Neonatal Research Network Terminology C C99022 Prekallikrein Deficiency Prekallikrein Deficiency A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. C27215 Coagulation Factor Deficiency C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology C C99028 Pulmonary Agenesis Pulmonary Agenesis Congenital Absence of Lung An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C C99034 Congenital Pulmonary Lymphangiectasia Congenital Pulmonary Lymphangiectasia Congenital Pulmonary Lymphangiectasis A congenital abnormality in the lungs characterized by the presence of dilated lymphatic vessels in the interlobar, perivascular, and peribronchial areas of the lungs. Signs and symptoms appear at birth and include tachypnea, cyanosis, and respiratory distress. C98882 Congenital Lung Malformation 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 C99039 Radius Fracture Radius Fracture Fracture of Radius Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C C99040 Recto-Vesico-Vaginal Fistula Rectal-Vesico-Vaginal Fistula An abnormal communication between the rectum, bladder, and vagina. C79847 Vaginal Fistula C99147 Neonatal Research Network Terminology C C99041 Renal Agenesis Renal Agenesis A congenital abnormality characterized by the absence of one or both kidneys. C98885 Congenital Urinary System Abnormality C3149 Kidney Disease C99147 Neonatal Research Network Terminology C C99056 Schizencephaly Schizencephaly A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures. C97172 Congenital Nervous System Disorder C99147 Neonatal Research Network Terminology C C99059 Short Bowel Syndrome Short Bowel Syndrome Malabsorption that results from the removal of a large segment of the small intestine or, less frequently, from the complete dysfunction of a large portion of the small intestine. Signs and symptoms include diarrhea, steatorrhea, and weigh loss. Malabsorption that results from the removal of a large segment of the small intestine or, less frequently, from the complete dysfunction of a large portion of the small intestine. Signs and symptoms include diarrhea, steatorrhea, and weigh loss. C97171 Congenital Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C99067 Surfactant Protein Deficiency Surfactant Protein Deficiency Surfactant Apoprotein Abnormality A congenital deficiency of one of the surfactant proteins. C98882 Congenital Lung Malformation C99147 Neonatal Research Network Terminology C C99068 Surfactant Protein B Deficiency Surfactant Protein B Deficiency Surfactant Apoprotein B Deficiency Deficiency of surfactant protein B. It presents with severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C C99069 Surfactant Protein C Deficiency Surfactant Protein C Deficiency Surfactant Apoprotein C Deficiency Deficiency of surfactant protein C. It leads to progressive lung fibrosis. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C C99070 Surfactant Protein ABCA3 Deficiency Surfactant Protein ABCA3 Deficiency Surfactant Apoprotein ABCA3 Deficiency Deficiency of surfactant protein ABCA3. It leads to respiratory distress that is often fatal. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C C99071 Surfactant Protein D Deficiency Surfactant Protein D Deficiency Surfactant Apoprotein D Deficiency Deficiency of surfactant protein D. When present in normal amounts, this protein offers protection against pulmonary infection and inflammation. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C C99072 Surfactant Protein A Deficiency Surfactant Protein A Deficiency Surfactant Apoprotein A Deficiency Deficiency of surfactant protein A. When present in normal amounts, this protein protects the lungs against a variety of bacteria, viruses, and fungi. C99067 Surfactant Protein Deficiency C99147 Neonatal Research Network Terminology C C99083 Tibia Fracture Tibia Fracture Fracture of Tibia Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. C3046 Fracture C99147 Neonatal Research Network Terminology C C99103 Uterine Agenesis Uterine Agenesis Absence of Uterus|Uterus Absent A congenital abnormality characterized by the complete absence of the uterus. C103185 Congenital Reproductive System Abnormality C27020 Female Reproductive System 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 Vessels Abnormality C99147 Neonatal Research Network Terminology C C99121 In Utero Bowel Perforation In Utero Bowel Perforation Bowel perforation in utero that may result in meconium peritonitis. Bowel perforation in utero that may result in meconium peritonitis. C39611 Intestinal Perforation 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 C99147 Neonatal Research Network Terminology C C99144 Branch Pulmonary Artery Stenosis Branch Pulmonary Artery Stenosis Pulmonary Artery Stenosis, Branch (not PPS) Narrowing of the lumen of the right or left pulmonary artery branch. C99137 Great Vessels Abnormality C99147 Neonatal Research Network Terminology C C99149 Bayley Scale of Infant Development II Bayley Scale of Infant Development II The second edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavorial Examination C99147 Neonatal Research Network Terminology C C99150 Bayley Scale of Infant Development III Bayley Scale of Infant Development III The third edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavorial Examination 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 C99147 Neonatal Research Network Terminology C C99267 Congenital Malformation Syndrome Congenital Malformation Syndrome A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system. C2849 Congenital Malformation C99147 Neonatal Research Network Terminology C C28129 Renal Tubular Acidosis Renal Tubular Acidosis The inability of the kidneys to maintain acid-base homeostasis. The inability of the kidneys to maintain acid-base homeostasis. C27120 Electrolyte Disorder C3149 Kidney Disease C99147 Neonatal Research Network Terminology C C4376 Renal Failure Renal Failure Renal Failure Syndrome An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C C99042 Renal Vein Thrombosis Renal Vein Thrombosis The formation of a thrombus in the renal vein. The formation of a thrombus in the renal vein. C99107 Venous Thrombosis C99147 Neonatal Research Network Terminology C C84940 Oculocerebrorenal Syndrome 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. An X-linked, multisystem, metabolic disorder caused by mutations in the OCRL1 gene, the primary manifestations of which result from involvement of the eyes, nervous system and kidneys, and include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria, and renal tubular dysfunction. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C34845 Nephrotic Syndrome Nephrotic Syndrome Nephrosis A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. A syndrome characterized by proteinuria, hypoalbuminemia, and varying degrees of edema, and possibly hypercholesteremia. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C C50791 Urinary Tract Infection Urinary Tract Infection UTI|Urinary Tract Infectious Disease A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. An infection of the kidneys, ureters, bladder, and/or urethra. C26726 Infectious Disorder C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C C98901 Ureterovesical Obstruction Ureterovesical Obstruction Ureterovesico Junction Obstruction|Vesicoureteral 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. Complete or partial blockage of the ureter at the point where it enters the bladder. C79805 Urinary Tract Obstruction C99147 Neonatal Research Network Terminology C C3430 Urinary System Disorder Urinary System Disorder Disorder of Urinary System Disorders of any part of the urologic system. Any disease affecting the urinary system. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C C3847 Renal Cell Dysplasia Renal Cell Dysplasia Renal Dysplasia A finding of congenital malformations in the kidney characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. Abnormal development of the kidney with heterologous elements that is present at birth. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C C75464 Polycystic Kidney Disease 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. An inherited form of kidney disease characterized by multiple renal cysts. C3149 Kidney Disease C99147 Neonatal Research Network Terminology C C79805 Urinary Tract Obstruction Urinary Tract Obstruction Blockage of the normal flow of contents of the urinary tract. An impediment to the flow of urine along the urinary tract. C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C C84467 Vesicoureteral Reflux Vesicoureteral Reflux Vesicoureteric Reflux Abnormal flow of urine from the urinary bladder back into the ureters. Retrograde flow of urine from the urinary bladder into the upper urinary tract. C3430 Urinary System Disorder C99147 Neonatal Research Network Terminology C C84701 Fabry Disease 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. An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which 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 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. A syndrome due to multiple gene deletions, which 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 C99007 Pelviureteric Junction Obstruction Pelviureteric Junction Obstruction Obstruction of Pelviureteric Junction|Ureteropelvic Junction Obstruction A usually congenital abnormality characterized by the partial obstruction of the junction between the renal pelvis and ureter. It may lead to hydronephrosis. Complete or partial blockage of the ureter at the point where it enters the kidney. C79805 Urinary Tract Obstruction C99147 Neonatal Research Network Terminology C C99085 Townes-Brocks Syndrome 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. An autosomal dominant syndrome caused by mutations in the SALL1 gene, and characterized by imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities. C3101 Genetic Disorder C99147 Neonatal Research Network Terminology C C98874 Myelocele Myelocele Herniation of spinal cord tissue through a defect in a region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C101214 Spina Bifida C99147 Neonatal Research Network Terminology C C34571 Pulmonary Interstitial Emphysema Pulmonary Interstitial Emphysema Interstitial Emphysema of Lung|PIE Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. C3198 Lung Disorder C99147 Neonatal Research Network Terminology C C101034 Intentional Trauma Intentional Trauma Non-accidental Trauma|Nonaccidental Trauma An injury that is not the result of an accident or natural causes. An injury that is not the result of an accident or natural causes. C3671 Injury C99147 Neonatal Research Network Terminology C C101035 Neonatal Injury Related to Birth Birth Injury Birth Trauma|Neonatal Injury Related to Birth An injury sustained to a neonate during the birthing process. Injury to a newborn incurred during labor and delivery. C3671 Injury C99147 Neonatal Research Network Terminology C C101037 Transient Tachypnea of the Newborn Transient Tachypnea of the Newborn Retained Fetal Lung Fluid|Transitory Tachypnea of Newborn|Type II Respiratory Distress Syndrome|Wet Lung Syndrome A respiratory disorder characterized by higher than normal respiratory rates among premature and cesarean section delivered neonates whose lungs have not fully matured. The cause is often excess fluid in the lungs, and resolution is aided by supplemental oxygen and sometimes, antibiotics. A benign, self-limited, parenchymal lung disorder characterized by pulmonary edema resulting from delayed clearance of fetal alveolar fluid. C99232 Neonatal Respiratory System Disorder C99147 Neonatal Research Network Terminology C C101201 Myelomeningocele Spina Bifida Cystica Myelomeningocele A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. Incomplete closure of the spinal column during central nervous system development with protrusion of a hernial cyst containing meninges, spinal cord, or both. C101214 Spina Bifida C99147 Neonatal Research Network Terminology C C101270 Kernicterus Related to Isoimmunization Kernicterus due to Isoimmunization Kernicterus related to Isoimmunization Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. A type of kernicterus due to increased levels of unconjugated bilirubin in the serum as a consequence of the destruction of red blood cells initiated by the transmission of antibodies from a mother to the child via the placenta against any blood group antigen. C26920 Encephalopathy C99147 Neonatal Research Network Terminology C C103228 Perinatal Jaundice Related to Inspissated Bile Syndrome Perinatal Jaundice due to Inspissated Bile Syndrome Perinatal Jaundice Related to Inspissated Bile Syndrome Yellow pigmentation of the skin, mucous membranes and eyes due to hyperbilirubinemia caused by inspissated bile plugs in the bile ducts during the perinatal period. Yellow pigmentation of the skin, mucous membranes and sclerae due to hyperbilirubinemia associated with intraluminal bile plugs, sludge or gallstones in the newborn infant. C3143 Jaundice C99147 Neonatal Research Network Terminology C C106273 ABO Hemolytic Disease of the Newborn ABO Hemolytic Disease of Newborn ABO Isoimmunization|Hemolytic Disease due to ABO Isoimmunization A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-A or anti-B antibodies from a mother to the child via the placenta against A or B antigens of the newborn's blood. A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-A or anti-B antibodies from a mother to the child via the placenta against A or B antigens of the newborn's blood. C101304 Hemolytic Disease of the Newborn C99147 Neonatal Research Network Terminology C C110927 Physiologic Hyperbilirubinemia Physiologic Hyperbilirubinemia Physiological Hyperbilirubinemia Elevated bilirubin levels in the blood of a newborn infant. It is a normal response due to the limited ability to excrete bilirubin until the maturation of the neonatal liver is complete. Non-pathologic rise in bilirubin levels in the blood of a newborn infant, typically occurring within the first week of life, due to the limited ability to conjugate and excrete bilirubin. C99235 Neonatal Hyperbilirubinemia C99147 Neonatal Research Network Terminology C C26691 Adrenocortical Insufficiency Adrenal Insufficiency Adrenal Cortical Hypofunction|Adrenocortical Insufficiency An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). Diminished production of glucocorticoids. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C C26726 Infectious Disorder Infectious Disorder Infectious Disease A disorder resulting from the presence and activity of a microbial, viral, fungal, or parasitic agent. It can be transmitted by direct or indirect contact. A disorder resulting from the presence and activity of a microbial, viral, fungal, or parasitic agent. It can be transmitted by direct or indirect contact. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C C3020 Seizure Disorder Epilepsy Seizure Disorder A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. A neurological disorder characterized by recurring seizures. C96413 Brain Disorder C99147 Neonatal Research Network Terminology C C34807 Marfan Syndrome Marfan Syndrome Marfan's Syndrome A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. An autosomal-dominant genetic syndrome caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, pectus excavatum, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. C3101 Genetic Disorder C97075 Hereditary Connective Tissue Disorder C99147 Neonatal Research Network Terminology C C3988 Syndrome of Inappropriate Antidiuretic Hormone Secretion Syndrome of Inappropriate Antidiuretic Hormone Inappropriate ADH Secretion|SIADH|Syndrome of Inappropriate Antidiuretic Hormone Secretion|Syndrome of Inappropriate Vasopressin Secretion A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. A syndrome characterized by abnormally increased secretion of antidiuretic hormone. Signs and symptoms include hyponatremia and hypo-osmolality. C3009 Endocrine System Disorder C99147 Neonatal Research Network Terminology C C48592 Gastrointestinal Hemorrhage Gastrointestinal Bleed 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 C78592 Recurrent Laryngeal Nerve Paralysis Recurrent Laryngeal Nerve Palsy Recurrent Laryngeal Nerve Paralysis|Vagus Nerve Laryngeal Paralysis Paralysis of the recurrent laryngeal nerve. Causes include surgical and non-surgical traumas, neoplasms (e.g., lung carcinoma), and inflammatory neuritis. Paralysis of the recurrent laryngeal nerve. C26733 Cranial Nerve Disorder C103171 Recurrent Laryngeal Nerve Injury C99147 Neonatal Research Network Terminology C C81283 Red Reflex Test Red Reflex Vision Test Red Reflex Test An optic examination in which an ophthalmoscope or retinoscope is placed approximately 30cm from the eye to visualize whether a reddish hue is reflected from the retina. An optic examination in which an ophthalmoscope or retinoscope is placed in front of the eye to determine whether a circular reddish hue is visible. C84749 Newborn Examination C99147 Neonatal Research Network Terminology C C81314 Newborn Behavioral Examination Newborn Behavorial 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 C84479 Thrombophilia Hypercoaguability Hypercoagulability State|Hypercoagulable|Thrombophilia 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 Coagulopathy C99147 Neonatal Research Network Terminology C C85006 Persistent Fetal Circulation Persistent Pulmonary Hypertension of the Newborn PPHN|Persistent Fetal Circulation A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. C35729 Congenital Cardiovascular Abnormality C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C87077 Congenital Ankyloblepharon Fused Eyelid Congenital Ankyloblepharon A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. A finding in extremely premature newborns in which the normal epithelial adhesions connecting the upper and lower eyelids have not yet degraded. C99208 Eye Finding C99147 Neonatal Research Network Terminology C C87107 Pupils Equal Round and Reactive to Light Pupils Equal Round and Reactive to Light Pupil Equal Round and Reacting to Light|Pupils Equal Round and Reactive to Light Result While performing an assessment of the eyes, the examiner notes whether the pupils are equal, round, and reactive to light. If all findings are normal, the abbreviation PERRL is noted in the examiner's account of the physical examination. C36280 Nervous System Finding C99147 Neonatal Research Network Terminology C C92788 Fetal Heart Acceleration Fetal Heart Rate Acceleration Fetal Heart Acceleration An abrupt increase is defined as an increase from the onset of acceleration to the peak in less than 30 seconds. To be called an acceleration, the peak must be greater than or equal to 15 bpm, and the acceleration must last greater than or equal to 15 seconds from the onset to return to baseline. An abrupt increase is defined as an increase from the onset of acceleration to the peak in less than 30 seconds. To be called an acceleration, the peak must be greater than or equal to 15 bpm, and the acceleration must last greater than or equal to 15 seconds from the onset to return to baseline. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C C92863 Prolonged Acceleration Prolonged Fetal Heart Rate Acceleration Prolonged Acceleration A fetal heart rate acceleration that lasts 2 to less than 10 minutes. A fetal heart rate acceleration that lasts 2 to less than 10 minutes. C92788 Fetal Heart Rate Acceleration C99147 Neonatal Research Network Terminology C C92929 Fetal Heart Monitoring Fetal Heart Rate Monitoring Fetal Heart Monitoring The act of observing and recording the fetal heart rate for determining the baseline values or other abnormal findings. The act of observing and recording the fetal heart rate for determining the baseline values or other abnormal findings. C90341 Pediatric Intervention or Procedure C99147 Neonatal Research Network Terminology C C9305 Malignant Neoplasm Cancer Malignancy|Malignant Growth|Malignant Neoplasm|Malignant Neoplastic Disease A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. Uncontrolled growth of abnormal cells with potential for metastatic spread. C3262 Neoplasm C99147 Neonatal Research Network Terminology C C98609 TORCH Syndrome TORCH Infection TORCH Syndrome|Toxoplasmosis, Other Infections, Rubella, Cytomegalovirus, and Herpes Simplex Virus (TORCH) Syndrome A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. An infection caused by bacteria, viruses or parasites transmitted directly from the mother to an embryo, fetus or neonate during pregnancy or childbirth. Clinical manifestations may include intrauterine growth restriction; a petechial rash, jaundice, hepatosplenomegaly; chorioretinitis, intracranial calcification and other abnormalities of the brain; and congenital heart defects. C3101 Genetic Disorder C26726 Infectious Disorder C99147 Neonatal Research Network Terminology C C98846 Breast Milk Jaundice Breastmilk Jaundice Breast Milk Jaundice|Neonatal Jaundice due to Delayed Conjugation from Breast Milk Inhibitors Jaundice in an otherwise healthy breast-fed newborn. It appears four to seven days after birth, lasts longer than the physiologic jaundice, and there are no identifiable causes. Yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn. It commonly appears one to two weeks after birth and lasts longer than physiologic jaundice. C99246 Neonatal Jaundice C99147 Neonatal Research Network Terminology C C99044 Retinopathy of Prematurity in Zone 1 Retinopathy of Prematurity in Retinal Anatomic Zone 1 Retinopathy of Prematurity in Zone 1 Retinopathy of prematurity located in zone 1 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 1, a circle that is centered on the optic nerve and extends peripherally twice the distance from the center of the optic disc to the center of the macula. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99045 Retinopathy of Prematurity in Zone 2 Retinopathy of Prematurity in Retinal Anatomic Zone 2 Retinopathy of Prematurity in Zone 2 Retinopathy of prematurity located in zone 2 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 2, a circle surrounding zone 1 and extending peripherally to the nasal ora serrata. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99046 Retinopathy of Prematurity in Zone 3 Retinopathy of Prematurity in Retinal Anatomic Zone 3 Retinopathy of Prematurity in Zone 3 Retinopathy of prematurity located in zone 3 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 3, the residual temporal crescent of retina anterior to zone 2. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99047 Retinopathy of Prematurity Stage 1 Demarcation Line Retinopathy of Prematurity Stage 1 Retinopathy of Prematurity Stage 1 - Demarcation Line An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of a faint demarcation line. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 1 is defined by a demarcation line, a thin but definite structure that separates the avascular retina anteriorly from the vascularized retina posteriorly. There is abnormal branching or arcading of vessels leading up to the demarcation line that is relatively flat, white, and lies within the plane of the retina. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99048 Retinopathy of Prematurity Stage 2 Intraretinal Ridge Retinopathy of Prematurity Stage 2 Retinopathy of Prematurity Stage 2 - Intraretinal Ridge An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of an elevated ridge. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 2 is defined by an intraretinal ridge, the ridge arises from the demarcation line and has height and width, which extends above the plane of the retina. The ridge may change from white to pink and vessels may leave the plane of the retina posterior to the ridge to enter it. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99049 Retinopathy of Prematurity Stage 3 Ridge with Extraretinal Fibroblastic Proliferation Retinopathy of Prematurity Stage 3 Retinopathy of Prematurity Stage 3 - Ridge with Extraretinal Fibrovascular Proliferation An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of extraretinal fibrovascular tissue. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 3 is defined by a ridge with extraretinal fibrovascular proliferation, the neovascularization extends from the ridge into the vitreous. This extraretinal proliferating tissue is continuous with the posterior aspect of the ridge, causing a ragged appearance as the proliferation becomes more extensive. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99050 Retinopathy of Prematurity Stage 4 Subtotal Retinal Detachment Retinopathy of Prematurity Stage 4 Retinopathy of Prematurity Stage 4 - Subtotal Retinal Detachment An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of subtotal retinal detachment. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 4 is defined by subtotal retinal detachment. The retinal detachments are generally concave and most are circumferentially oriented. Retinal detachments usually begin at the point of fibrovascular attachment to the vascularized retina and the extent of detachment depends on the amount of neovascularization present. Stage 4A is defined by retinal detachment which spares the macula. Stage 4B is defined by retinal detachment involving the macula. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99051 Retinopathy of Prematurity Stage 5 Total Retinal Detachment Retinopathy of Prematurity Stage 5 Retinopathy of Prematurity Stage 5 - Total Retinal Detachment An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of total retinal detachment. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 5 is defined by total retinal detachment. The retinal detachments are generally tractional and usually funnel shaped. The configuration of the funnel itself is used for subdivision of this stage depending if the anterior and posterior portions are open or narrowed. C34982 Retinopathy of Prematurity C99147 Neonatal Research Network Terminology C C99082 Thalidomide Embryopathy Syndrome Thalidomide Embryopathy Fetal Thalidomide Syndrome|Thalidomide Embryopathy Syndrome Fetal embryopathy associated with maternal thalidomide use during pregnancy characterized by phocomelia of one or all limbs, other limb defects such as thumb abnormalities, and other structural anomalies that may include facial hemangioma, esophageal and duodenal atresia, tetralogy of Fallot, renal agenesis, and anomalies of the external ear. Long term complications may include Moebius syndrome or autism. Fetal embryopathy associated with maternal thalidomide use during pregnancy characterized by phocomelia of one or all limbs, other limb defects such as thumb abnormalities, and other structural anomalies that may include facial hemangioma, esophageal and duodenal atresia, tetralogy of Fallot, renal agenesis, and anomalies of the external ear. Long term complications may include Moebius syndrome or autism. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C99110 Drug Induced Thrombocytopenia Drug-Induced Thrombocytopenia Drug Induced Thrombocytopenia|Drug-Induced Immune Thrombocytopenia Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction. Abnormally low level of platelets in the blood associated with exposure to a pharmacologic agent. C3408 Thrombocytopenia C99147 Neonatal Research Network Terminology C C99117 Immature Retinal Vasculature in Zone 1 Immature Retinal Vasculature in Retinal Anatomic Zone 1 Immature Retinal Vasculature in Zone 1 A finding that indicates the presence of immature retinal vessels in zone 1 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 1, a circle that is centered on the optic nerve and extends peripherally twice the distance from the center of the optic disc to the center of the macula. C99115 Immature Retinal Vasculature C99147 Neonatal Research Network Terminology C C99118 Immature Retinal Vasculature in Zone 2 Immature Retinal Vasculature in Retinal Anatomic Zone 2 Immature Retinal Vasculature in Zone 2 A finding that indicates the presence of immature retinal vessels in zone 2 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 2, a circle surrounding zone 1 and extending peripherally to the nasal ora serrata. C99115 Immature Retinal Vasculature C99147 Neonatal Research Network Terminology C C99119 Immature Retinal Vasculature in Zone 3 Immature Retinal Vasculature in Retinal Anatomic Zone 3 Immature Retinal Vasculature in Zone 3 A finding that indicates the presence of immature retinal vessels in zone 3 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 3, the residual temporal crescent of retina anterior to zone 2. C99115 Immature Retinal Vasculature C99147 Neonatal Research Network Terminology C C99233 Neonatal Rickets Metabolic Bone Disease of Prematurity Neonatal Rickets|Osteopenia of Prematurity Rickets that usually affects premature infants. Factors that contribute to the development of neonatal rickets include calcium, phosphorus, or calciferol deficiency. It manifests with spontaneous fractures, respiratory distress, and growth developmental delays. A condition affecting premature infants characterized by decreased bone mineral content relative to the expected level of mineralization for an infant of comparable postmenstrual age. C98996 Neonatal Disorder C26878 Rickets C99147 Neonatal Research Network Terminology C C101197 Congenital Supraventricular Tachycardia Congenital Supraventricular Tachycardia Congenital SVT|Supraventricular Tachycardia (SVT), Congenital|Supraventricular Tachycardia (SVT), Congential A disorder present at birth characterized by an electrocardiographic finding of a tachycardia that originates above the ventricles. C35061 Supraventricular Tachycardia C99147 Neonatal Research Network Terminology C C12789 Skull Skull Bone, Cranial|Cranial Cavity Structure|Cranium The bones that form the head, made up of the bones of the braincase and face. The bones that form the head, made up of the bones of the braincase and face. (NCI) C32221 Body Part C99147 Neonatal Research Network Terminology C C26729 Connective Tissue Disorder Connective Tissue Disorder Disorder of Connective Tissue|Primary Disorder of Connective Tissue A non-neoplastic or neoplastic disorder that affects the connective tissue. A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C C26733 Cranial Nerve Disorder Cranial Nerve Disorder Cranial Nerve Disease|Cranial Neuropathy|Disorder of Cranial Nerve A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. Impaired or altered function of one or more of the cranial nerves. C27580 Peripheral Nervous System Disorder C99147 Neonatal Research Network Terminology C C26769 Facial Nerve Palsy Facial Nerve Palsy Bell's Palsy|Facial Palsy Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve. C26733 Cranial Nerve Disorder C99147 Neonatal Research Network Terminology C C26781 Gastroesophageal Reflux Disease Gastroesophageal Reflux Disease GERD A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. Reflux of stomach contents with symptoms and/or complications from the reflux act. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C26791 Hemorrhage Hemorrhage Bleeding The flow of blood from a ruptured blood vessel. Loss of blood. C2931 Cardiovascular Disorder C99147 Neonatal Research Network Terminology C C26835 Nervous System Disorder Nervous System Disorder Disorder of Nervous System|Neurologic Disorder A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. C2991 Disease or Disorder C99147 Neonatal Research Network Terminology C C27153 Lupus Erythematosus Lupus Erythematosus Lupus An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. An umbrella term referring to disease entities such as cutaneous, subacute cutaneous, discoid and systemic lupus erythematosus. C2889 Autoimmune Disease C99147 Neonatal Research Network Terminology C C2889 Autoimmune Disease Autoimmune Disease Autoimmune Disorder A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). A disorder that may result in abnormality, impaired function or damage of one or more organs or tissues, arising from autoreactive humoral or cellular immune responses. C3507 Immune System Disorder C99147 Neonatal Research Network Terminology C C2962 Seizure Seizure Convulsion Sudden, involuntary skeletal muscular contractions of cerebral or brain stem origin. A paroxysmal surge of electrical activity in the brain that may result in physical or behavioral changes. C87124 Central Nervous System Signs and Symptoms C99147 Neonatal Research Network Terminology C C2992 Disseminated Intravascular Coagulation Disseminated Intravascular Coagulation DIC A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. Excessive activation of the body's coagulation system resulting in systemic microvascular thrombi formation. C2902 Coagulopathy C99147 Neonatal Research Network Terminology C C3364 Septicemia Sepsis Sepsis Syndrome|Septicemia The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention. A systemic inflammatory response to an infection. C2890 Bacterial Disease C99147 Neonatal Research Network Terminology C C3390 Cerebrovascular Accident Cerebrovascular Accident Cerebral Infarction|Stroke A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. Brain tissue necrosis due to a disturbance in the blood flow or hemorrhage. C50438 Intracranial Hemorrhage C99147 Neonatal Research Network Terminology C C34982 Retinopathy of Prematurity Retinopathy of Prematurity Retrolental Fibroplasia|Terry Syndrome 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. C98996 Neonatal Disorder C62601 Retinopathy C99147 Neonatal Research Network Terminology C C3724 Cystic Hygroma Cystic Hygroma Cystic Lymphangioma A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. C2978 Cyst C3262 Neoplasm C99147 Neonatal Research Network Terminology C C4371 Gestational Hypertension Gestational Hypertension Pregnancy Associated Hypertension|Pregnancy-Induced Hypertension A blood pressure elevation after 20 weeks of gestation in the absence of either proteinuria or systemic findings like thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema or the new-onset of cerebral or visual disturbances. A blood pressure elevation after 20 weeks of gestation in the absence of either proteinuria or systemic findings like thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema or the new-onset of cerebral or visual disturbances. C3117 Hypertension C34941 Pregnancy Complication C99147 Neonatal Research Network Terminology C C81282 Dubowitz Score Dubowitz Score Ballard Score|Ballard/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 Newborn or Infant Finding C99147 Neonatal Research Network Terminology C C81323 Sucking Reflex Sucking Reflex Suck Swallow Reflex An involuntary, primal response in the neonate when a nipple is placed on an infant's lips. An involuntary response in the neonate when a nipple is placed on an infant's lips to rhythmically suck, that disappears by 2-5 months of age. C81181 Infant Reflex C99147 Neonatal Research Network Terminology C C81324 Tonic Neck Reflex Tonic Neck Reflex ATNR|Asymmetrical Tonic Neck Reflex An involuntary, primal response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward. An involuntary response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward, that disappears by 4-6 months of age. C81181 Infant Reflex C99147 Neonatal Research Network Terminology C C84814 Leigh Disease 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 C84914 Myotonic Dystrophy Myotonic Dystrophy An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. C84913 Myotonic Disorder C99147 Neonatal Research Network Terminology C C84915 Necrotizing Enterocolitis Necrotizing Enterocolitis NEC|Necrotizing Enterocolitis in Fetus or Newborn A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. A disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis. C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C84978 Osteochondrodysplasia Osteochondrodysplasia Congenital Skeletal Dysplasia|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 C92782 Fetal Bradycardia Fetal Bradycardia Baseline Fetal Bradycardia|Bradycardia Fetal A fetal heart rate below 110 bpm that is sustained for longer than 10 minutes. A fetal heart rate below 110 bpm that is sustained for longer than 10 minutes. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C C92786 Fetal Fibronectin Test Fetal Fibronectin Test FFN|Fetal Fibronectin Measurement A test for the presence of fetal fibronectin in the cervico-vaginal area that is used to predict preterm birth. A test for the presence of fetal fibronectin in the cervico-vaginal area that is used to predict preterm birth. C25294 Laboratory Procedure C99147 Neonatal Research Network Terminology C C92789 Fetal Heart Deceleration Fetal Heart Deceleration Fetal Heart Rate Deceleration A decrease in the fetal heart rate that has a duration of less than 10 minutes. A decrease from the baseline fetal heart rate that has a duration of less than 10 minutes. C92715 Fetal Heart Finding C99147 Neonatal Research Network Terminology C C92796 Fetal Tachycardia Fetal Tachycardia Baseline Fetal Tachycardia|Tachycardia Fetal A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. C92715 Fetal Heart Finding C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98619 Parenteral Nutrition - Associated Cholestasis Parenteral Nutrition - Associated Cholestasis TPN Acquired Cholestasis|TPN Associated Cholestasis Cholestasis that results from prolonged total parenteral nutrition. It is caused by diminished bile flow from the liver into the duodenum. It may result in cirrhosis and liver failure. Preterm infants are most susceptible to liver damage. Diminished bile flow from the liver into the duodenum as a result of prolonged parenteral nutrition or total parenteral nutrition. C83006 Cholestasis C99147 Neonatal Research Network Terminology C C98927 Fetal Hydantoin Syndrome Fetal Hydantoin Syndrome Dilantin Embryopathy|Phenytoin Embryopathy A teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development. A teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development. C92719 Fetal Disorder C99147 Neonatal Research Network Terminology C C98936 Hematochezia Hematochezia Bloody Stool 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 C98950 Hyperammonemia Hyperammonemia Elevated Ammonia Level A laboratory test result demonstrating an increased concentration of ammonia in the blood. A laboratory test result demonstrating an increased concentration of ammonia in the blood. C27120 Electrolyte Disorder C99147 Neonatal Research Network Terminology C C98952 Hypertrophic Pyloric Stenosis Hypertrophic Pyloric Stenosis Congenital Constriction of the Pylorus|Congenital Hypertrophy of the Pylorus|Congenital Pyloric Stenosis|Congenital Stricture of the Pylorus|Infantile Constriction of the Pylorus|Infantile Hypertrophy of the Pylorus|Infantile Pyloric Stenosis|Infantile Stricture of the Pylorus An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. Narrowing of the pyloric channel, the opening from the stomach to the duodenum, caused by enlargement and thickening of the circular muscular layer surrounding this opening. C34966 Pyloric Stenosis C99147 Neonatal Research Network Terminology C C98980 Meconium Plug Syndrome Meconium Plug Syndrome Functional Immaturity of Colon|Meconium Plug A transient colonic dysfunction in the newborn characterized by the delayed passage of meconium and associated intestinal dilatation. A transient disorder of the newborn colon characterized by the delayed passage of meconium and intestinal dilatation. C2990 Gastrointestinal Disorder C99147 Neonatal Research Network Terminology C C99013 Periventricular Leukomalacia Periventricular Leukomalacia PVL Necrosis and softening of the white matter around the ventricles in the brain. It is usually seen in preterm infants and caused by lack of blood flow and oxygenation in the periventricular brain parenchyma. A form of cerebral white matter injury usually seen in preterm infants that is characterized by necrotic degeneration or gliosis of white matter adjacent to the cerebral ventricles, that may evolve into focal cysts. C98920 Encephalomalacia C99147 Neonatal Research Network Terminology C C99057 Severe Bronchopulmonary Dysplasia Severe Bronchopulmonary Dysplasia Severe BPD 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 C99138 Germinal Matrix Hemorrhage of the Newborn Germinal Matrix Hemorrhage of Newborn Grade 1 Intraventricular (Nontraumatic) Hemorrhage of Fetus and Newborn|Grade 1 Intraventricular Hemorrhage of the Newborn|Intraventricular (Nontraumatic) Hemorrhage, Grade 1, of Fetus and Newborn|Intraventricular Hemorrhage of Newborn Grade 1|Subependymal Germinal Matrix Hemorrhage of Newborn Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles of a newborn. Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C99139 Intraventricular Hemorrhage of the Newborn without Ventricular Dilatation Intraventricular Hemorrhage of the Newborn without Ventricular Dilatation Grade 2 Intraventricular (Nontraumatic) Hemorrhage of Fetus and Newborn|Grade 2 Intraventricular Hemorrhage of the Newborn|Intraventricular (Nontraumatic) Hemorrhage, Grade 2, of Fetus and Newborn|Intraventricular Hemorrhage of Newborn Grade 2 Bleeding into the lateral cerebral ventricles of a newborn infant without acute ventricular dilatation. Bleeding into the lateral cerebral ventricles of a newborn infant without acute ventricular dilatation. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C99140 Intraventricular Hemorrhage of the Newborn with Ventricular Dilatation Intraventricular Hemorrhage of the Newborn with Ventricular Dilatation Grade 3 Intraventricular (Nontraumatic) Hemorrhage of Fetus and Newborn|Grade 3 Intraventricular Hemorrhage of the Newborn|Intraventricular (Nontraumatic) Hemorrhage, Grade 3, of Fetus and Newborn|Intraventricular Hemorrhage of Newborn Grade 3 Bleeding into the lateral cerebral ventricles of a newborn infant with ventricular dilatation directly attributable to the acute bleeding. Bleeding into the lateral cerebral ventricles of a newborn infant with ventricular dilatation directly attributable to the acute bleeding. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology C C99248 Neonatal Diabetes Mellitus Neonatal Diabetes Mellitus Congenital 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 Diabetes Melllitus C98996 Neonatal Disorder C99147 Neonatal Research Network Terminology D C92781 Beat to Beat Variability Beat to Beat Variability Fetal Heart Rate Variability A fetal heart monitor finding where there is a change in the beats per minute from one fetal heart beat to the next. C92790 Fetal Heart Rate Variability C99147 Neonatal Research Network Terminology