steroid 21-monooxygenase deficiency, simple virilizing type

Preferred Label : steroid 21-monooxygenase deficiency, simple virilizing type;

Details

Origin ID

D6-80140;

UMLS CUI

C0268287;

Automatic exact mappings (from CISMeF team)
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- 21-hydroxylase deficiency [MedDRA Preferred Term]
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [OMIM Phenotype]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) [SNOMED CT concept]
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH concept]
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ICD-11 More detail]
- Steroid 21-monooxygenase deficiency, simple virilizing type (disorder) [SNOMED CT concept]
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH Supplementary Concept]
False automatic mappings
- Deficiency of steroid 21-monooxygenase (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
- congenital deficiency, nos [SNOMED Notion]
- steroid 21-monooxygenase [SNOMED Notion]
SNOMED CT concept
- Steroid 21-monooxygenase deficiency, simple virilizing type (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form [ORDO Disease]
- Deficiency of steroid 21-monooxygenase (disorder) [SNOMED CT concept]
- Steroid 21-Monooxygenase Deficiency [NCIt concept]
- Steroid 21-monooxygenase deficiency, simple virilizing type (disorder) [SNOMED CT concept]
- simple virilizing 21 hydroxylase deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- 21-Hydroxylase Deficiency [NCIt concept]
- congenital adrenal hyperplasia 1 [Disease (Nov.)]

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