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SNOMED CT code SNOMED code 78548001 name Enzymopathy status active date introduced 2002-01-31 fully specified name(s) Enzymopathy (disorder) synonyms Enzymopathy Enzyme disorder parents Metabolic disease 75934005 children 17 alpha-Hydroxyprogesterone aldolase deficiency 49013001 3 beta-Hydroxysteroid dehydrogenase deficiency 54470008 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 57514000 4-Hydroxyphenylpyruvate dioxygenase deficiency 413356003 5,10-Methylenetetrahydrofolate reductase deficiency 41797007 5-Oxoprolinase deficiency 26132002 Acetyl-CoA: acyltransferase deficiency 398294009 removed: 2005-07-31 Acquired lactase deficiency 60414003 Acyl-CoA dehydrogenase deficiency 82319005 Adult hypophosphatasia 20756002 Alpha-1-antitrypsin deficiency 30188007 Aminomethyltransferase deficiency 67845009 Aromatase excess syndrome 709075008 Beta-aminoisobutyric aciduria 21529005 Carnitine palmitoyltransferase deficiency 90500005 Childhood hypophosphatasia 30174008 Cholesterol monooxygenase (side-chain cleaving) deficiency 44231009 Circulating enzyme deficiency 80231000119105 Citrullinemia 398680004 Combined pancreatic lipase and colipase deficiency 763212006 Congenital lactase deficiency 5388008 Corticosterone 18-monooxygenase deficiency 47757001 Crigler-Najjar syndrome 28259009 Deficiency in enzyme complexes of mitochondrial respiratory chain 237987001 Deficiency of steryl-sulfatase 3642008 Dihydropteridine reductase deficiency 58256000 Dihydropyrimidinase deficiency 238014002 Dihydropyrimidine dehydrogenase deficiency 77365006 Disorder due to cytochrome p450 enzyme variant 424819008 removed: 2018-07-31 Disorder due to N-acetyltransferase enzyme variant 423148005 Disorder of lysosomal enzyme 23585005 Ehlers-Danlos syndrome, procollagen proteinase deficient 55711009 Essential benign fructosuria 40278002 Essential pentosuria 190764000 Ethanolaminosis 64235006 Ferrochelatase deficiency 276265003 Fructose-biphosphatase deficiency 28183005 Gamma-glutamyl transpeptidase deficiency 78586005 Glutamate formiminotransferase deficiency 59761008 Glutathione S-transferase deficiency 21630007 Glutathione synthase deficiency with 5-oxoprolinuria 39112005 Glycine dehydrogenase (decarboxylating) deficiency 63329001 Hepatic methionine adenosyltransferase deficiency 57835009 Hereditary fructosuria 20052008 Hereditary orotic aciduria 16242007 Homocarnosinase deficiency 61764000 Hyper-beta-carnosinemia 273700000 Hyperammonemia, type III 57119000 Hyperandrogenism due to non-classic 21-hydroxylase deficiency 698854006 Hypertyrosinemia, Richner-Hanhart type 4887000 Hypervalinemia 47719001 Infantile hypophosphatasia 55236002 Intestinal disaccharidase deficiency 22169002 Intestinal enteropeptidase deficiency 56661000 Iodotyrosine deiodination defect 17885001 Isovaleryl-CoA dehydrogenase deficiency 87827003 Kynureninase deficiency 72945002 Lactase deficiency in diseases other than of the small intestine 29512005 Maple syrup urine disease 27718001 Methylcrotonyl-CoA carboxylase deficiency 13144005 Methylene THF reductase deficiency AND homocystinuria 28093001 Muscle AMP deaminase deficiency 9105005 Muscle D-lactate dehydrogenase deficiency 287266002 Muscle L-lactate dehydrogenase deficiency 55783001 Muscle phosphoglycerate mutase deficiency 61772003 Nonpersistence of intestinal lactase 38032004 Ornithine carbamoyltransferase deficiency 80908008 Other deficiencies of circulating enzymes 190943006 removed: 2010-01-31 Pancreatic alpha-amylase deficiency 81685000 Pancreatic colipase deficiency 69478001 Phenylketonuria 190687004 Primary hyperoxaluria 17901006 Proline dehydrogenase deficiency 61071003 Propionic acidemia 69080001 Propionyl-CoA carboxylase deficiency 367417005 removed: 2002-07-31 Purine-nucleoside phosphorylase deficiency 60743005 Pyruvate carboxylase deficiency 87694001 Sarcosine dehydrogenase deficiency 64852002 Sepiapterin reductase deficiency 45116002 Specific enzyme deficiency 129456006 Succinate-semialdehyde dehydrogenase deficiency 49748000 Sulfite oxidase deficiency syndrome 40873003 Testosterone 17-beta-dehydrogenase deficiency 50658006 Tetrahydrofolate methyltransferase deficiency 89579000 Urocanate hydratase deficiency 60952007 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 75934005 78548001 ancestors sorted most to least specific
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