pseudovaginal perineoscrotal hypospadias

Preferred Label : pseudovaginal perineoscrotal hypospadias;

CISMeF synonym : 5-Alpha reductase deficiency;

MeSH synonym : male pseudohermaphroditism due to 5-alpha-reductase deficiency; familial incomplete male pseudohermaphroditism, type 2;

MeSH Hyperonym : Steroid 5-Alpha-Reductase Deficiency;

Details

Origin ID

C535830;

UMLS CUI

C0268297;

Automatic exact mappings (from CISMeF team)
- 5-Alpha-Reductase Deficiency [NCIt concept]
- Male pseudohermaphroditism due to 5-alpha-reductase deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 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 [MedDRA Preferred Term]
- Pseudovaginal perineoscrotal hypospadias [OMIM Phenotype]
MeSH term(s) associated for indexing
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase [MeSH Descriptor]
- Disorder of Sex Development, 46,XY [MeSH Descriptor]
- hypospadias [MeSH Descriptor]
- steroid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- 5-Alpha reductase deficiency [MeSH concept]
- Pseudovaginal perineoscrotal hypospadias [MeSH 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]
- 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]
- 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 [OMIM Phenotype]
Validated automatic mappings to BTNT
- 5 alpha reductase deficiency type 2 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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