5-Alpha-Reductase Deficiency

Preferred Label : 5-Alpha-Reductase Deficiency;

Obsolete resource : true;

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

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

NCIt note : See '5 Alpha Steroid Reductase 2 Deficiency(C98699)';

Concept status : Retired_Concept;

Details

Origin ID

C120193;

UMLS CUI

C3669122;

Automatic exact mappings (from CISMeF team)
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 5-Alpha reductase deficiency [MeSH concept]
- 5-alpha-reductase deficiency [MedDRA Preferred Term]
- pseudovaginal perineoscrotal hypospadias [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
- Laboratory or Test Result [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 5-Alpha reductase deficiency [MeSH concept]
- 5-alpha-reductase deficiency [MedDRA Preferred Term]

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