OMOP Concept 442575
Enzymopathy
StandardConditionSNOMED78548001Disorder
Maps from
7
Descendants
945
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
7 source codes normalize to Enzymopathy via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 141187 | Enzymopathy | Non-standard |
| ICD10CM | D81.81 | Biotin-dependent carboxylase deficiency | Non-standard |
| ICD9CM | 277.6 | Other deficiencies of circulating enzymes | Non-standard |
| Nebraska Lexicon | 78548001 | Enzyme disorder | Non-standard |
| Read | C376.00 | Other deficiencies of circulating enzymes | Non-standard |
| Read | C376y00 | Other specified circulating enzyme deficiency | Non-standard |
| Read | C376z00 | Deficiency of circulating enzyme NOS | Non-standard |
Synonyms
Alternative names recorded for Enzymopathy across source vocabularies.
- enzimopatía
- enzimopatía (trastorno)
- Enzyme disorder
- Enzymopathy (disorder)
- trastorno enzimático
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(3)Roll up to these when you need a wider cohort.
Narrower concepts
(945)Included automatically when you query with descendants.
- 117 alpha-Hydroxyprogesterone aldolase deficiency
- 13 beta-Hydroxysteroid dehydrogenase deficiency
- 13-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- 14-Hydroxyphenylpyruvate dioxygenase deficiency
- 15,10-Methylenetetrahydrofolate reductase deficiency
- 15-Oxoprolinase deficiency
- 1Acquired lactase deficiency
- 1Acyl-CoA dehydrogenase deficiency
- 1Adult hypophosphatasia
- 1Alpha-1-antitrypsin deficiency
- 1Aminomethyltransferase deficiency
- 1Aromatase excess syndrome
- 1Arthrochalasia Ehlers-Danlos syndrome
- 1Beta-aminoisobutyric aciduria
- 1Carnitine palmitoyltransferase deficiency
- 1Childhood hypophosphatasia
- 1Cholesterol monooxygenase (side-chain cleaving) deficiency
- 1Circulating enzyme deficiency
- 1Citrullinemia
- 1Combined pancreatic lipase and colipase deficiency
- 1Congenital lactase deficiency
- 1Corticosterone 18-monooxygenase deficiency
- 1Crigler-Najjar syndrome
- 1Deficiency in enzyme complexes of mitochondrial respiratory chain
- 1Deficiency of steryl-sulfatase
- 1Dihydropteridine reductase deficiency
- 1Dihydropyrimidinase deficiency
- 1Dihydropyrimidine dehydrogenase deficiency
- 1Disorder due to N-acetyltransferase enzyme variant
- 1Disorder of lysosomal enzyme
- 1Essential benign fructosuria
- 1Essential pentosuria
- 1Ethanolaminosis
- 1Ferrochelatase deficiency
- 1Fructose-biphosphatase deficiency
- 1Gamma-glutamyl transpeptidase deficiency
- 1Glutamate formiminotransferase deficiency
- 1Glutathione S-transferase deficiency
- 1Glycine dehydrogenase (decarboxylating) deficiency
- 1Hepatic methionine adenosyltransferase deficiency
- 1Hereditary fructosuria
- 1Hereditary orotic aciduria
- 1Homocarnosinase deficiency
- 1Hyperammonemia, type III
- 1Hyperandrogenism due to non-classic 21-hydroxylase deficiency
- 1Hyper-beta-carnosinemia
- 1Hypervalinemia
- 1Infantile hypophosphatasia
- 1Intestinal disaccharidase deficiency
- 1Intestinal enteropeptidase deficiency
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