Inborn error of metabolism

Code	`86095007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

4901300117 alpha-Hydroxyprogesterone aldolase deficiency disorder

544700083 beta-Hydroxysteroid dehydrogenase deficiency disorder

575140003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency disorder

261320025-Oxoprolinase deficiency disorder

4920001Acetyl-CoA carboxylase deficiency disorder

15890002Albinism disorder

286920009Amino acid/carbohydrate metabolic disorder disorder

67845009Aminomethyltransferase deficiency disorder

41013004Argininosuccinate lyase deficiency disorder

55711009Arthrochalasia Ehlers-Danlos syndrome disorder

1269235004Autosomal recessive extra-oral halitosis disorder

778067002Brachytelephalangic chondrodysplasia punctata disorder

17608003CHILD syndrome disorder

773329005CK syndrome disorder

1373509009Carnosinase deficiency disorder disorder

44231009Cholesterol monooxygenase (side-chain cleaving) deficiency disorder

783175003Congenital muscular dystrophy without intellectual disability disorder

363041004Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism disorder

47757001Corticosterone 18-monooxygenase deficiency disorder

24308003Cystathionine beta-synthase deficiency disorder

190948002Defect in post-translational modification of lysosomal enzymes disorder

360994007Deficiency of Xaa-Pro dipeptidase disorder

1187616008Deficiency of galactose mutarotase disorder

124628005Deficiency of histidine ammonia-lyase disorder

124680001Deficiency of methylmalonyl-CoA mutase disorder

1299153008Digenic haemochromatosis disorder

58256000Dihydropteridine reductase deficiency disorder

297226004Disorder of creatine synthesis disorder

39929009Disorder of fatty acid metabolism disorder

238045003Disorder of glycoprotein metabolism disorder

238043005Disorder of glycosaminoglycan metabolism disorder

238059005Disorder of peroxisomal function disorder

237981000Disorder of pyruvate metabolism and mitochondrial respiratory chain disorder

190304001Dyshormonogenic goitre disorder

51022005Erythropoietic protoporphyria disorder

190764000Essential pentosuria disorder

64235006Ethanolaminosis disorder

75652008Familial renal iminoglycinuria disorder

28183005Fructose-biphosphatase deficiency disorder

78586005Gamma-glutamyl transpeptidase deficiency disorder

1363284002Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation disorder

62403005Glucose-6-phosphate dehydrogenase deficiency anaemia disorder

190749000Glucose-galactose malabsorption disorder

36799008Glutamate-cysteine ligase deficiency disorder

63329001Glycine dehydrogenase (decarboxylating) deficiency disorder

47526003HNSHA due to NADH diaphorase deficiency disorder

42484009HNSHA due to hexokinase deficiency disorder

1230003009Heme oxygenase-1 deficiency disorder

57835009Hepatic methionine adenosyltransferase deficiency disorder

1296959007Hereditary butyrylcholinesterase deficiency disorder

724356003Hereditary combined deficiency of vitamin K-dependent clotting factors disorder

726079008Hereditary hypercarotenaemia and vitamin A deficiency disorder

57119000Hyperammonaemia, type III disorder

718106009Hyperinsulinism and hyperammonaemia syndrome disorder

47719001Hypervalinaemia disorder

190859005Hypophosphatasia disorder

42930003Inborn error of amino acid metabolism disorder

72262000Inborn error of glutathione metabolism disorder

43465001Inborn error of lipoprotein metabolism disorder

5655007Inherited disorder of bilirubin metabolism disorder

4702003Inherited disorder of folate metabolism disorder

36985004Inherited disorder of thyroid metabolism disorder

128190004Inherited metabolic disorder of nervous system disorder

56661000Intestinal enteropeptidase deficiency disorder

87827003Isovaleryl-CoA dehydrogenase deficiency disorder

1216941002Ketoacidosis due to monocarboxylate transporter-1 deficiency disorder

10741005Lipid storage disease disorder

782745008Lipoyl transferase 1 deficiency disorder

1269231008Lipoyl transferase 2 deficiency disorder

303852004Lysinuric protein intolerance disorder

27718001Maple syrup urine disease disorder

13144005Methylcrotonyl-CoA carboxylase deficiency disorder

765137006Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency disorder

60045007Moderate steroid 21-hydroxylase deficiency disorder

1172966001Multiple carboxylase deficiency disorder

80908008Ornithine carbamoyltransferase deficiency disorder

1367655003PAICS deficiency disorder disorder

69478001Pancreatic colipase deficiency disorder

190687004Phenylketonuria disorder

64081000Porphobilinogen synthase deficiency disorder

399959003Premature ageing syndrome disorder

17901006Primary hyperoxaluria disorder

61071003Proline dehydrogenase deficiency disorder

69080001Propionic acidaemia disorder

49748000SSADH (succinic semialdehyde dehydrogenase) deficiency disorder

64852002Sarcosine dehydrogenase deficiency disorder

1237339005Severe primary trimethylaminuria disorder

15991002Severe steroid 21-hydroxylase deficiency disorder

1237512003Short stature, developmental delay, congenital heart defect syndrome disorder

34420000Storage disease disorder

40873003Sulphite oxidase deficiency syndrome disorder

235915002Synthetic defect of bile acids disorder

50658006Testosterone 17-beta-dehydrogenase deficiency disorder

84193000Trehalase deficiency disorder

190953007Trypsinogen deficiency disorder

4887000Tyrosinaemia type 2 disorder

60952007Urocanate hydratase deficiency disorder

72523005X-linked ichthyosis with steryl-sulphatase deficiency disorder

1295529002Xp21 deletion syndrome disorder

Synonyms

Parents (2)

Children (99)