5 Alpha Steroid Reductase 2 Deficiency

Preferred Label : 5 Alpha Steroid Reductase 2 Deficiency;

NCIt synonyms : Pseudovaginal Perineoscrotal Hypospadias;

NCIt related terms : 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency; 5-Alpha-Reductase Deficiency;

NCIt definition : An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism.;

Alternative definition : NICHD: Decreased 5-alpha-reductase type 2 in genital tissues resulting in reduced local concentration of dihydrotestosterone (DHT).;

Details

Origin ID

C98699;

UMLS CUI

C0268297;

Automatic exact mappings (from CISMeF team)
- Male pseudohermaphroditism due to 5-alpha-reductase deficiency (disorder) [SNOMED CT concept]
CISMeF manual mappings
- 5 alpha reductase deficiency type 2 [Disease (Nov.)]
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]
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ICD-11 More detail]
- 5-alpha-reductase deficiency [MedDRA Preferred Term]
- 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]
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ICD-11 More detail]
- 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 NTBT
- 5 alpha reductase deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SRD5A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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