3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency - CISMeF

" /> 3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency - CISMeF

CISMeF

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3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiencySNOMED Notion

Preferred Label : 3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency;

Details

Origin ID

D6-80310;

UMLS CUI

C0268297;

Currated CISMeF NLP mapping
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ORDO Disease]
- 5 Alpha Steroid Reductase 2 Deficiency [NCIt concept]
- 5 alpha reductase deficiency [Disease (Nov.)]
- 5-Alpha reductase deficiency [MeSH concept]
- 5-alpha-reductase deficiency [MedDRA Preferred Term]
- Pseudovaginal perineoscrotal hypospadias [OMIM Phenotype]
- Pseudovaginal perineoscrotal hypospadias [MeSH concept]
- pseudovaginal perineoscrotal hypospadias [MeSH Supplementary 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
- 3-oxo-5alpha-steroid delta4-dehydrogenase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
SNOMED CT concept
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ORDO Disease]
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ICD-11 More detail]
- 5 Alpha Steroid Reductase 2 Deficiency [NCIt concept]
- 5 alpha reductase deficiency [Disease (Nov.)]
- 5 alpha reductase deficiency type 2 [Disease (Nov.)]
- 5-alpha-reductase deficiency [MedDRA Preferred Term]
- Male pseudohermaphroditism due to 5-alpha-reductase deficiency (disorder) [SNOMED CT concept]
- Pseudovaginal perineoscrotal hypospadias [MeSH concept]
- Pseudovaginal perineoscrotal hypospadias [OMIM Phenotype]
- pseudovaginal perineoscrotal hypospadias [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- 5 alpha reductase deficiency type 2 [Disease (Nov.)]

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14/06/2025

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