D	C99102	Glutaric Acidemia Type 2	Glutaric Aciduria, Type 2		A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly.		C34816	Congenital Metabolic Disorder			C99147	Neonatal Research Network Terminology		
C	C34345	Achondroplasia	Achondroplasia		An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.	An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition results in inappropriate cartilage growth plate differentiation and deficient endochondral growth, and manifests clinically with severe rhizomelic short stature.	C89330	Developmental Disorder	C84978	Osteochondrodysplasia	C99147	Neonatal Research Network Terminology		
C	C75019	Sotos Syndrome	Sotos Syndrome	Cerebral Gigantism Syndrome|Sotos' Syndrome	An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay.	An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay.	C89330	Developmental Disorder	C3101	Genetic Disorder	C99147	Neonatal Research Network Terminology		
C	C26721	Hemophilia B	Hemophilia B	Factor IX Deficiency|Hereditary Factor IX Deficiency Disease|Hereditary Factor IX Deficiency	An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.	An X-linked recessive deficiency of coagulation factor IX characterized by a tendency to bleed. Hemophilia B occurs in approximately 1 in 20,000 live male births.	C3093	Hemophilia	C98942	Hereditary Coagulation Factor Deficiency	C99147	Neonatal Research Network Terminology		Christmas Disease
C	C101218	Hemolytic Anemia due to Membrane Defect	Hemolytic Anemia due to Erythrocyte Membrane Defect	Anemia due to Membrane Defect|Hemolytic Anemia due to Membrane Defect	A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis.	A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis, and hereditary elliptocytosis.	C34376	Hemolytic Anemia	C34379	Hereditary Hemolytic Anemia	C99147	Neonatal Research Network Terminology		
C	C34676	Sickle Cell-Hemoglobin C Disease	Hemoglobin SC Disease	Sickle Cell-Hemoglobin C Disease	A hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin C disease. Patients present with the symptoms of sickle cell disease but the latter are less frequent and severe compared to sickle cell disease.	A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin C mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with full sickle cell disease.	C3092	Hemoglobinopathy	C34383	Sickle Cell Disease	C99147	Neonatal Research Network Terminology		
C	C101362	Complete Trisomy 18 Syndrome	Trisomy 18	Complete Trisomy 18 Syndrome|Edwards 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.	A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.	C2950	Chromosomal Abnormality			C99147	Neonatal Research Network Terminology		
C	C103186	Sexual Differentiation Disorder	Differences of Sex Development	CARD|Conditions Affecting Reproductive Development|DSD|Disorder of Sexual Differentiation|Disorders of Sex Development|Intersex Conditions|Intersex|Sexual Differentiation Disorder	A congenital disorder characterized by abnormalities in the development of the sexual characteristics.	Congenital conditions in which there is variation in the number and/or structure of the sex chromosomes, and/or in which the development of gonadal, reproductive, and/or genital structures is atypical.	C103185	Congenital Reproductive System Abnormality	C89330	Developmental Disorder	C99147	Neonatal Research Network Terminology		
C	C12326	Undescended Testes	Cryptorchidism	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 persistent 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	C27226	Androgen Insensitivity Syndrome	Androgen Insensitivity Syndrome	Androgen Resistance Syndrome	A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics.	Partial or complete resistance to androgenic hormones due to one or more mutations in the androgen receptor (AR) gene.	C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology		
C	C2989	DiGeorge Syndrome	22q Deletion Syndrome(s)	DGS1|DiGeorge Sequence|DiGeorge Syndrome Type 1|DiGeorge Syndrome|Shprintzen Syndrome|Sphrintzen|VCF|Velo-Cardio-Facial Syndrome|Velocardiofacial Syndrome	A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.	A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism.	C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology		
C	C2993	Down Syndrome	Trisomy 21	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.	A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism.	C2950	Chromosomal Abnormality			C99147	Neonatal Research Network Terminology		
C	C3718	Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	WAGR Syndrome	11p Partial Monosomy Syndrome|Wilms Tumor, Aniridia, Genitourinary Anomalies and Developmental Delay Syndrome|Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation 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 syndrome characterized by a predisposition for Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13 in a region containing the WT1 and PAX6 genes.	C2950	Chromosomal Abnormality			C99147	Neonatal Research Network Terminology		
C	C61271	Wolman Disease	Lysosomal Acid Lipase Deficiency	Wolman Disease|Wolman's Disease	A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands.	An autosomal recessive condition caused by mutation(s) in the LIPA gene, resulting in lysosomal acid lipase deficiency, which leads to accumulation of cholesterol esters and triglycerides in many organs.	C3101	Genetic Disorder	C34816	Congenital Metabolic Disorder	C99147	Neonatal Research Network Terminology		
C	C26900	Turner Syndrome	Turner Syndrome	45,X Gonadal Dysgenesis|45X Syndrome|Bonnevie-Ullrich Syndrome|Monosomy X|Ullrich-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.	A condition caused by absence of part or all of the second sex chromosome in an individual with female phenotype, resulting in a variable constellation of physical and functional anomalies. Characteristic clinical features may include, but are not limited to, short stature, premature ovarian failure, cardiac anomalies, renal anomalies, skeletal variations, and hearing impairment.	C2950	Chromosomal Abnormality			C99147	Neonatal Research Network Terminology		45,X0 Syndrome
C	C95539	Sickle Beta Thalassemia	Sickle Beta Thalassemia	Hb S-Beta Thalassemia|S-Beta Thalassemia|Sickle Cell-Beta-Thalassemia	A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene.	A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal beta-globin produced by the beta-thalassemia gene.	C61237	Sickle Cell-Thalassemia	C35069	Thalassemia	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 Deficiency|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.	An X-linked recessive disorder caused by mutations in the G6PD gene. It is characterized by subnormal activity of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia, usually in response to infection or exposure to food, drugs, or other substances.	C34384	Anemia due to Disorder of Glutathione Metabolism	C131630	Anemia due to Erythrocyte Enzyme Disorder	C99147	Neonatal Research Network Terminology		
C	C27146	Hemophilia A	Hemophilia A	Factor VIII Deficiency|Hereditary Factor VIII Deficiency Disease|Hereditary Factor VIII Deficiency	An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an X-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births.	An X-linked recessive deficiency of coagulation factor VIII characterized by a tendency to bleed. Hemophilia A, the most common type of hemophilia, occurs in approximately 1 in 4,000 to 1 in 5,000 live male births.	C3093	Hemophilia	C98942	Hereditary Coagulation Factor Deficiency	C99147	Neonatal Research Network Terminology		
C	C99111	Heparin Induced Thrombocytopenia	Heparin-Induced Thrombocytopenia	HIT|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 complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications.	C99110	Drug-Induced Thrombocytopenia	C3991	Immune Thrombocytopenia	C99147	Neonatal Research Network Terminology		
C	C101222	Complete Trisomy 21 Syndrome	Complete Trisomy 21 Syndrome	Down 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.	A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism.	C2950	Chromosomal Abnormality			C99147	Neonatal Research Network Terminology		
C	C110940	Panhypopituitarism	Panhypopituitarism	Complete Hypopituitarism	Insufficient production of all the anterior pituitary hormones.	A deficiency of all anterior pituitary hormones, without necessary involvement of the hormones of the posterior pituitary gland (oxytocin and vasopressin).	C3009	Endocrine System Disorder			C99147	Neonatal Research Network Terminology		
C	C26691	Adrenocortical Insufficiency	Adrenal Insufficiency	Adrenal Cortical Hypofunction|Adrenocortical Insufficiency|Hypocortisolemia|Hypocortisolism	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).	Subnormal concentration of cortisol, with or without mineralocorticoid insufficiency.	C3009	Endocrine System Disorder			C99147	Neonatal Research Network Terminology		
C	C34383	Sickle Cell Disease	Sickle Cell Disease	Sickle Cell Anemia|Sickling Disorder due to Hemoglobin S	A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.	An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion.	C3092	Hemoglobinopathy			C99147	Neonatal Research Network Terminology		
C	C34752	Klinefelter Syndrome	Klinefelter Syndrome	47,XXY 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.	A condition caused by the presence of an extra X chromosome resulting in 47,XXY karyotype in an individual with male phenotype. The condition is characterized in childhood by relative tall stature with disproportionately long limbs, and speech/language developmental problems in some patients. Postpubertal findings include small testes, gynecomastia, and infertility.	C2950	Chromosomal Abnormality			C99147	Neonatal Research Network Terminology		
C	C3988	Syndrome of Inappropriate Antidiuretic Hormone Secretion	Syndrome of Inappropriate Antidiuretic Hormone	Inappropriate ADH Secretion|Inappropriate Arginine Vasopressin 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 elevated concentrations of antidiuretic hormone (ADH) or ADH-like peptides, in the setting of hyponatremia and hypoosmolality. Causes include surgical damage to the pituitary stalk, drugs that stimulate release of, or mimic ADH, including psychotropic drugs, ectopic production of ADH, and pulmonary disease.	C3009	Endocrine System Disorder			C99147	Neonatal Research Network Terminology		
C	C75100	CHARGE Syndrome	CHARGE Syndrome	Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association|Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association	A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.	An autosomal dominant syndrome caused by mutation(s) in the CHD7 gene, encoding chromodomain-helicase-DNA-binding protein 7, and characterized by coloboma, cardiac anomalies, choanal atresia, growth and developmental delay, hypogonadotropic hypogonadism, and ear anomalies.	C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology		
C	C75463	Prader-Willi Syndrome	Prader-Willi Syndrome	Hyperphagia|Hypotonia|Obesity Syndrome|Prader-Labhart-Willi Syndrome|Prader-Willi-Labhart Syndrome	A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism.	A syndrome caused by loss of the paternal copy of the q11-q13 region of chromosome 15 due to deletion, maternal uniparental disomy, or imprinting defects. The condition is characterized by infantile hypotonia, feeding difficulties, and failure to thrive in the first year of life, progressing to hyperphagia and obesity. Other common features include hypopigmentation, distinctive facial features, short stature, small hands and feet, hypogonadism, and neurobehavioral issues.	C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology		
C	C84609	Campomelic Dysplasia	Campomelic Dysplasia	CMD	A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects.	A condition associated with heterozygous mutation(s) in the SOX9 gene, characterized in 46,XY individuals by atypical development of the gonads ("sex reversal"), internal and external reproductive structures, with (campomelic) or without (acampomelic) skeletal dysplasia.	C84978	Osteochondrodysplasia			C99147	Neonatal Research Network Terminology		
C	C84615	Carbohydrate-Deficient Glycoprotein Syndrome	Carbohydrate-Deficient Glycoprotein Syndrome	Congenital Disorders of Glycosylation	An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.	A group of metabolic syndromes present at birth that result from deficient N-glycosylation of proteins. The manifestations are heterogenous and multi-systemic, and may include hypoglycemia due to hyperinsulinism and growth failure.	C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology		
C	C85063	Septo-Optic Dysplasia	Septo-Optic Dysplasia	De Morsier syndrome|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.	A genetically heterogenous syndrome that may be caused by mutation(s) in the HESX1, OTX2, and SOX2 genes, encoding homeobox expressed in ES cells 1, homeobox protein OTX2, and transcription factor SOX-2, respectively. Clinical features may include hypoplasia of the optic nerve(s), impaired vision, absence of the septum pellucidum, hypopituitarism, and behavior disturbances.	C98999	Optic Nerve Hypoplasia			C99147	Neonatal Research Network Terminology		
C	C85068	Russell-Silver Syndrome	Russell-Silver Syndrome	Silver-Russell Syndrome	A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.	A genetic syndrome characterized by prenatal growth restriction, postnatal failure to thrive, short stature, hypoglycemia, insulin resistance, characteristic "triangular" facial shape, asymmetry of limbs, and camptodactyly or clinodactyly. Many cases are due to DNA hypomethylation of the imprinting control region 1 on chromosome 11p15.5, affecting the imprinting of H19 and IGF2 genes or maternal uniparental disomy of chromosome 7.	C89330	Developmental Disorder	C3101	Genetic Disorder	C99147	Neonatal Research Network Terminology		
C	C85232	Williams Syndrome	Williams Syndrome	Williams-Beuren 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 caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes, and characterized by distinctive facial appearance (elfin facies), mild-to-moderate developmental delay, cheerfulness, cardiovascular dysfunction which may include supravalvular aortic stenosis, and endocrine abnormalities, including precocious puberty, hypothyroidism, and infantile hypercalcemia/ hypercalciuria.	C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology		
C	C98873	Type II Acrocephalopolysyndactyly	Type II Acrocephalopolysyndactyly	Acrocephalopolysyndactyly Type II|Carpenter 's Syndrome|Carpenter Syndrome	An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.	An autosomal recessive syndrome due to mutation(s) in the RAB23 gene, encoding RAB23, member of the RAS oncogene family and the MEGF8 gene, encoding multiple EGF like domains 8. This condition is characterized by growth failure and craniosynostosis leading to acrocephaly, brachydactyly with syndactly, congenital heart defects, hypogonadism, and obesity. *Check with Liz about this phrasing. Something seems off to me about this, but as this is her expertise not mine, I shall defer to her.	C34348	Acrocephalosyndactyly			C99147	Neonatal Research Network Terminology		
C	C99038	Radial Aplasia-Thrombocytopenia Syndrome	Radial Aplasia-Thrombocytopenia Syndrome	TAR Syndrome|Thrombocytopenia-Absent Radius Syndrome	A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone.	A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radii.	C3101	Genetic Disorder	C97075	Hereditary Connective Tissue Disorder	C99147	Neonatal Research Network Terminology		
C	C99142	OEIS Complex	OEIS Syndrome	Cloacal Exstrophy|Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects	A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities.	A spectrum of anomalies without common etiology that occurs during development of the abdominal wall. Clinical features may include omphalocele, exstrophy of the bladder and rectum, imperforate anus, and spinal defects. Genital and reproductive anomalies may include bifid penis, clitoris, and/or uterus.	C97151	Congenital Systemic Disorder			C99147	Neonatal Research Network Terminology		
C	C99233	Neonatal Rickets	Metabolic Bone Disease of Prematurity	Neonatal Rickets|Osteopenia of Prematurity|Rickets 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 characterized by decreased mineral content of the bone of a fetus or infant due to inadequate availability of calcium and/or phosphorus. Associated risk factors include the degree of prematurity, low birth weight, medication exposures, immobilization, and nutrient insufficiency. Metabolic bone disease of prematurity is characterized by hypophosphatemia, hyperphosphatasia, and secondary hyperparathyroidism, and may include rachitic bony changes and fractures. Inadequate bone mineralization may contribute to bronchopulmonary dysplasia and poor growth.	C98996	Neonatal Disorder	C26878	Rickets	C99147	Neonatal Research Network Terminology		
C	C98810	Ambiguous Genitalia	Atypical 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 neither typically male nor typically female in appearance.	C103185	Congenital Reproductive System Abnormality			C99147	Neonatal Research Network Terminology		Ambiguous Genitalia
C	C98939	Hereditary Factor VII Deficiency	Hereditary Factor VII Deficiency		A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding.	An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.	C131631	Factor VII Deficiency	C98942	Hereditary Coagulation Factor Deficiency	C99147	Neonatal Research Network Terminology		
C	C98940	Hereditary Factor X Deficiency	Hereditary Factor X Deficiency		A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor X, resulting in bleeding.	An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.	C131632	Factor X Deficiency	C98942	Hereditary Coagulation Factor Deficiency	C99147	Neonatal Research Network Terminology		
C	C98941	Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency		A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor XIII, resulting in bleeding.	An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood.	C131633	Factor XIII Deficiency	C98942	Hereditary Coagulation Factor Deficiency	C99147	Neonatal Research Network Terminology		
C	C26770	Hereditary Factor XII Deficiency	Hereditary Factor XII Deficiency		A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding.	An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood.	C98942	Hereditary Coagulation Factor Deficiency			C99147	Neonatal Research Network Terminology		
C	C26799	Hereditary Factor II Deficiency	Hereditary Factor II Deficiency		A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding.	An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood.	C98942	Hereditary Coagulation Factor Deficiency			C99147	Neonatal Research Network Terminology		
C	C98937	Hereditary Factor I Deficiency	Hereditary Factor I Deficiency		An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding.	An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood.	C98942	Hereditary Coagulation Factor Deficiency			C99147	Neonatal Research Network Terminology		
C	C98938	Hereditary Factor V Deficiency	Hereditary Factor V Deficiency		A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding.	An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.	C98942	Hereditary Coagulation Factor Deficiency			C99147	Neonatal Research Network Terminology		
C	C3185	Leukemoid Reaction	Leukemoid Reaction		A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.	A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors, in a peripheral blood smear.	C36292	Laboratory Test Result	C35524	Leukocytosis	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.	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 mucocutaneous bleeding.	C2902	Coagulation Disorder	C27215	Coagulation Factor Deficiency	C99147	Neonatal Research Network Terminology		
C	C97167	Anemia of Prematurity	Anemia of Prematurity		A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.	A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months after birth.	C2869	Anemia	C104003	Congenital Hematological Disorder	C99147	Neonatal Research Network Terminology		
C	C98898	Congenital Methemoglobinemia	Congenital Methemoglobinemia		Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.	Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.	C104003	Congenital Hematological Disorder	C34817	Methemoglobinemia	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.	An autosomal recessive, inherited disorder characterized by deficiency of high molecular weight kininogen. Its clinical features include prolonged partial thromboplastin time and absence of bleeding diathesis.	C2902	Coagulation Disorder	C27215	Coagulation Factor Deficiency	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.	Thrombocytopenia caused by medications, which can be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction.	C131634	Platelet Abnormality	C3408	Thrombocytopenia	C99147	Neonatal Research Network Terminology		
C	C34376	Hemolytic Anemia	Hemolytic Anemia		Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.	Anemia resulting from the premature destruction of the erythrocytes.	C2869	Anemia	C131656	Anemia due to Increased Destruction	C99147	Neonatal Research Network Terminology		
C	C98943	Hereditary Pyropoikilocytosis	Hereditary Pyropoikilocytosis		An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.	An autosomal recessive disorder that produces a molecular defect in spectrin and a partial spectrin deficiency. It manifests as a severe hemolytic anemia in infancy with thermal instability of the erythrocytes. It is clinically similar to, and now considered a subtype of, homozygous hereditary elliptocytosis.	C104003	Congenital Hematological Disorder	C35882	Hereditary Elliptocytosis	C99147	Neonatal Research Network Terminology		
C	C99037	Pyruvate Kinase Deficiency	Pyruvate Kinase Deficiency	Hemolytic Anemia due to Pyruvate Kinase Deficiency	An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia.	An autosomal recessive disorder caused by mutations of the PKLR gene. It is the most common inherited cause of non-spherocytic hemolytic anemia.	C97090	Amino Acid Metabolism Disorder	C131630	Anemia due to Erythrocyte Enzyme Disorder	C99147	Neonatal Research Network Terminology		
C	C99055	Sacrococcygeal Teratoma	Sacrococcygeal Teratoma		A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.	A teratoma that is found at the base of the coccyx; it is the most commonly seen tumor in newborns.	C3262	Neoplasm	C3403	Teratoma	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 liver tumor that arises from precursors of hepatocytes. It occurs almost exclusively in infants. The lungs are the most common site of metastasis.	C34803	Primary Malignant Liver Neoplasm			C99147	Neonatal Research Network Terminology		
C	C98805	Acquired Methemoglobinemia	Acquired Methemoglobinemia		Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods.	Methemoglobinemia that is caused by exposure to certain drugs, including dapsone and xylocaine, and nitrate-rich foods.	C34817	Methemoglobinemia			C99147	Neonatal Research Network Terminology		
C	C26734	Congenital Hypothyroidism	Congenital Hypothyroidism		A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality.	Hypothyroidism, the cause of which is present at birth.	C34816	Congenital Metabolic Disorder			C99147	Neonatal Research Network Terminology		
C	C26798	Hypophosphatasia	Hypophosphatasia		A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.	An autosomal recessive or dominant disorder caused by mutation(s) in the ALPL gene, encoding the alkaline phosphatase, tissue-nonspecific isozyme. The condition is characterized by absent or diminished alkaline phosphatase activity, resulting in the accumulation of inorganic pyrophosphate, which prevents mineralization of hydroxyapatite. The bone mineralization defects have a broad spectrum of severity: mild forms are characterized only by low serum alkaline phosphatase concentrations and early tooth loss; severe cases may manifest with hypercalcemia, and may result in stillbirth or early death. There are five subtypes identified primarily by the age of onset.	C27120	Electrolyte Disorder			C99147	Neonatal Research Network Terminology		
C	C26800	Hypothyroidism	Hypothyroidism		Abnormally low levels of thyroid hormone.	Reduced secretion of thyroid hormone(s) by the thyroid gland.	C3009	Endocrine System Disorder			C99147	Neonatal Research Network Terminology		
C	C26878	Rickets	Rickets		Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.	A disorder of defective chondrocyte differentiation and mineralization of the epiphyseal plate due to deficiency of calcium, phosphate, or vitamin D. Rickets can manifest clinically with features such as craniotabes, costrochondral junction enlargement, widening of the wrists and ankles, lower extremity bowing, and failure to thrive. This condition is diagnosed radiographically, and is characterized by growth plate widening as well as metaphyseal cupping and fraying.	C26836	Nutritional Disorder			C99147	Neonatal Research Network Terminology		
C	C27215	Coagulation Factor Deficiency	Coagulation Factor Deficiency	Coagulation Factor Deficiency Syndrome	Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.	Congenital or acquired deficiency of one of the coagulation factors.	C2902	Coagulation Disorder			C99147	Neonatal Research Network Terminology		
C	C3092	Hemoglobinopathy	Hemoglobinopathy		An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.	An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.	C104003	Congenital Hematological Disorder			C99147	Neonatal Research Network Terminology		
C	C3093	Hemophilia	Hemophilia		A deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (hereditary factor VIII deficiency) hemophilia B or Christmas disease (hereditary factor IX deficiency), and hemophilia C (hereditary factor XI deficiency). Factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor VIII deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy.	A coagulation disorder characterized by the partial or complete absence of factor VIII or IX activity in the blood.	C27215	Coagulation Factor Deficiency	C103172	Congenital Bleeding Disorder	C99147	Neonatal Research Network Terminology		
C	C3123	Hyperthyroidism	Hyperthyroidism		Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.	Increased secretion of thyroid hormone(s) by the thyroid gland.	C3009	Endocrine System Disorder			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.	Deficiency of a coagulation factor that is not caused by genetic alterations.	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.	A group of heritable conditions associated with loss-of-function mutations in the genes encoding proteins involved in corticosteroid production, resulting in enlargement of the adrenal gland.	C2849	Congenital Malformation			C99147	Neonatal Research Network Terminology		
C	C34415	Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome		A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas.	A complex syndrome resulting from various genetic and epigenetic anomalies of the 11p15.5 chromosomal region, leading to dysregulated expression of imprinted genes. Specific genes involved include CDKN1C, H19, IGF2, and KCNQ1OT1. One of the key genetic anomalies is an imbalance between the paternally expressed IGF2 growth enhancer gene and the maternally expressed H19 growth suppressor gene, leading to fetal and postnatal overgrowth. The condition is typically characterized by macrosomia, macroglossia, umbilical hernia or more severe abdominal wall anomalies such as omphalocele, ear lobe indentations, and hypoglycemia associated with hyperinsulinemia due to pancreatic islet cell hyperplasia. Patients with this syndrome have an increased risk for development of embryonal tumors (particularly Wilms tumor and hepatoblastoma) and adrenal cortex carcinoma.	C89330	Developmental Disorder	C3101	Genetic Disorder	C99147	Neonatal Research Network Terminology		
C	C34675	Hemoglobin C Disease	Hemoglobin C Disease		An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice.	An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic.	C3092	Hemoglobinopathy			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 condition caused by mutation(s) in the FBN1 gene, encoding fibrillin-1. This condition is characterized by tall stature, disproportionately long limbs, arachnodactyly, and hyperextensible joints; additional features may include scoliosis, kyphosis, pectus excavatum/carinatum, mitral valve prolapse, aortic dilatation, aortic dissection, and upward subluxation of one or both ocular lens.	C3101	Genetic Disorder	C97075	Hereditary Connective Tissue Disorder	C99147	Neonatal Research Network Terminology		
C	C34854	Noonan Syndrome	Noonan Syndrome	Noonan's Syndrome	A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.	A predominantly autosomal dominant condition typically caused by mutation(s) in genes encoding proteins involved in the RAS-MAP kinase pathway, disrupting the regulation of cell growth and division. The condition is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, pectus excavatum/carinatum, right sided cardiac anomalies (pulmonary stenosis, hypertrophic cardiomyopathy), bleeding disorders, and an increased risk of leukemia. Fifty percent of individuals with Noonan syndrome have mutation(s) in the PTPN11 gene, encoding tyrosine-protein phosphatase non-receptor type 11.	C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology		
C	C35069	Thalassemia	Thalassemia		An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.	An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.	C3092	Hemoglobinopathy			C99147	Neonatal Research Network Terminology		
C	C3708	Germ Cell Tumor	Germ Cell Tumor		A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, dysgerminoma, and germinoma.	C3262	Neoplasm			C99147	Neonatal Research Network Terminology		
C	C43263	Diabetes Insipidus	Diabetes Insipidus		A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.	A condition characterized by excretion of large amounts of dilute urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone.	C3009	Endocrine System Disorder			C99147	Neonatal Research Network Terminology		
C	C48259	Hyperparathyroidism	Hyperparathyroidism		Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.	Elevated concentration of parathyroid hormone. Causes include conditions originating within the parathyroid glands (primary), in response to hypocalcemia and hyperphosphatemia (secondary), and renal disease (tertiary). Characteristics may include polyuria, polydipsia, constipation, lethargy, cognitive dysfunction, hypercalciuria, nephrolithiasis, and bone demineralization or reduced bone mineral density.	C3009	Endocrine System Disorder			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.	Incomplete development of the forebrain that may be associated with midfacial anomalies and pituitary hormone deficiencies.	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. Approximately 95% of cases are diagnosed before age 5. 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 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. Approximately 95% of cases are diagnosed before age 5. 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.	C9305	Cancer			C99147	Neonatal Research Network Terminology		
C	C78350	Hypoparathyroidism	Hypoparathyroidism		An endocrine disorder characterized by decreased production of parathyroid hormone by the parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails, cataracts, tetany, and convulsions.	Decreased production or secretion of parathyroid hormone by the parathyroid gland, resulting in hypocalcemia due to decreased release of calcium and phosphate from bone matrix, decreased renal calcium reabsorption, and decreased renal production of 1,25-dihydroxyvitamin D-3, which decreases intestinal absorption of calcium. Hypoparathyroidism is also associated with hyperphosphatemia as a result of hypophosphaturia.	C3009	Endocrine System Disorder			C99147	Neonatal Research Network Terminology		
C	C84705	Hereditary Factor XI Deficiency	Hereditary Factor XI Deficiency Disease		A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be asymptomatic or manifest with bleeding.	An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.	C3101	Genetic Disorder	C3093	Hemophilia	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.	Abnormalities in development and growth of bone and cartilage.	C89337	Congenital Musculoskeletal Defect			C99147	Neonatal Research Network Terminology		
C	C85071	Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome		A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.	An autosomal recessive syndrome caused by mutations in the DHCR7 gene, encoding 7-dehydrocholesterol reductase, the enzyme responsible for the first step of cholesterol synthesis. The enzyme deficiency results in reduced production of steroid hormones and underdevelopment of male genitalia due to androgen deficiency. This condition may also be associated with microcephaly, developmental delay, characteristic facial anomalies, and syndactyly.	C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology		
C	C98815	Antithrombin III Deficiency	Antithrombin III Deficiency		A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.	A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.	C2902	Coagulation 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.	An inherited coagulation disorder characterized by deficiency of one of the coagulation factors.	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.	A thrombophilia disorder characterized by deficiency of protein C; it results in venous thromboembolism.	C103172	Congenital Bleeding Disorder	C84479	Thrombophilia	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.	A thrombophilia disorder characterized by deficiency of protein S; it results in venous thromboembolism.	C103172	Congenital Bleeding Disorder	C84479	Thrombophilia	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.	Depletion of fat-soluble vitamin K stores.	C27215	Coagulation Factor Deficiency	C35772	Vitamin Deficiency 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.	Diabetes mellitus occurring in the first six months of life.	C2985	Diabetes Mellitus	C98996	Neonatal Disorder	C99147	Neonatal Research Network Terminology		
C	C60832	Oxygen Saturation Measurement	Oxygen Saturation Measurement		The measurement of the ratio of oxygenated hemoglobin to total hemoglobin in the blood.		C18020	Diagnostic Procedure			C99147	Neonatal Research Network Terminology		
C	C61275	Mannosidosis	Mannosidosis		A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.		C3101	Genetic Disorder	C61250	Lysosomal Storage Disorder	C99147	Neonatal Research Network Terminology		
C	C2902	Coagulation Disorder	Coagulation Disorder	Coagulation Defect|Coagulopathy	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	C84479	Thrombophilia	Thrombophilia	Hypercoagulability State|Hypercoagulability|Hypercoagulable	A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.	Abnormally increased tendency of the blood to form clots.	C2902	Coagulation Disorder			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	Coagulation Disorder	C131658	Consumptive Coagulopathy	C99147	Neonatal Research Network Terminology		
C	C103920	Hemoglobin Barts	Hemoglobin Barts	Bart's Hemoglobinopathy	A severe and rare form of alpha thalassemia characterized by the absence of alpha globin chains. It results in hydrops fetalis, severe anemia, hepatosplenomegaly, heart defects, and genitourinary abnormalities. It leads to death in utero or shortly thereafter.		C34368	Alpha Thalassemia			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.		C3268	Nervous System Neoplasm			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: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.	A rapidly progressive cancer of the brain that originates in the cerebellum.	C3268	Nervous System Neoplasm			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.	C3268	Nervous System Neoplasm			C99147	Neonatal Research Network Terminology		
C	C3359	Rhabdomyosarcoma	Rhabdomyosarcoma		A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.	A malignant neoplasm arising from skeletal myocytes.	C9306	Soft Tissue Sarcoma			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.		C3267	Wilms Tumor			C99147	Neonatal Research Network Terminology		
C	C98291	Gonadal Teratoma	Gonadal Teratoma	Teratoma, Gonads	A teratoma that arises from the testis or ovary.		C3403	Teratoma			C99147	Neonatal Research Network Terminology