cholesterol monooxygenase (side-chain cleaving) deficiency

Preferred Label : cholesterol monooxygenase (side-chain cleaving) deficiency;

Origin ID

D6-80110;

UMLS CUI

C0342474;

Automatic exact mappings (from CISMeF team)
- cholesterol monooxygenase (side-chain-cleaving) activity [GO term]
Currated CISMeF NLP mapping
- Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- cholesterol monooxygenase (side-chain cleaving) [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
SNOMED CT concept
- Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 20,22-desmolase deficiency [MedDRA Preferred Term]
- Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) [SNOMED CT concept]
- Congenital Lipoid Adrenal Hyperplasia [NCIt concept]
- Congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
- Lipoid congenital adrenal hyperplasia [OMIM Phenotype]
- Lipoid congenital adrenal hyperplasia [MeSH concept]
- congenital lipoid adrenal hyperplasia [Disease (Nov.)]
- lipoid congenital adrenal hyperplasia [MeSH Supplementary Concept]