3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Preferred Label : 3-Beta-Hydroxysteroid Dehydrogenase Deficiency;

NCIt related terms : 3-beta HSD Deficiency;

Alternative definition : NICHD: Congenital adrenal hyperplasia due to presumed mutation(s) in the HSD3B2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,XY infants may have incomplete development of the genitalia, while 46,XX infants may have virilization.;

Details

Origin ID

C131088;

UMLS CUI

C0342471;

Automatic exact mappings (from CISMeF team)
- Deficiency of 3beta-hydroxysteroid dehydrogenase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3 beta-hydroxysteroid dehydrogenase deficiency [SNOMED Notion]
- Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency [OMIM Phenotype]
- adrenal hyperplasia 2 [MeSH Supplementary Concept]
- congenital adrenal hyperplasia 2 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3 beta-hydroxysteroid dehydrogenase deficiency [SNOMED Notion]
- Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency [OMIM Phenotype]
- adrenal hyperplasia 2 [MeSH Supplementary Concept]
- congenital adrenal hyperplasia 2 [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- HSD3B2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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