46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Preferred Label : 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency;

ICD-11 definition : Steroid 5-alpha-reductase 2 deficiency is a rare disorder of sex development (DSD), characterized by incomplete differentiation of male genitalia in 46X,Y patients.;

ICD-11 synonym : 46,XY DSD due to 5-alpha-reductase 2 deficiency; Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency;

Details

Origin ID

1028755501;

UMLS CUI

C0268297;

Currated CISMeF NLP mapping
- 5 Alpha Steroid Reductase 2 Deficiency [NCIt concept]
- 5 alpha reductase deficiency type 2 [Disease (Nov.)]
See also inter- (CISMeF)
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [SNOMED Notion]
- Pseudovaginal perineoscrotal hypospadias [MeSH concept]
- Pseudovaginal perineoscrotal hypospadias [OMIM Phenotype]
- pseudovaginal perineoscrotal hypospadias [MeSH Supplementary Concept]
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]
- 3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [SNOMED Notion]
- 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 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 [OMIM Phenotype]
- Pseudovaginal perineoscrotal hypospadias [MeSH concept]
- pseudovaginal perineoscrotal hypospadias [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ORDO Disease]
- 5-alpha-reductase deficiency [MedDRA Preferred Term]

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