17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

Preferred Label : 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency;

NCIt synonyms : Pseudohermaphroditism, Male, with Gynecomastia;

NCIt related terms : 17 beta HSD3 Deficiency;

NCIt definition : Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.;

Alternative definition : NICHD: Decreased activity of the steroidogenic enzyme 17-beta-hydroxysteroid dehydrogenase, which is associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.;

Details

Origin ID

C120203;

UMLS CUI

C0268296;

Currated CISMeF NLP mapping
- 17 beta hydroxysteroid dehydrogenase 3 deficiency [Disease (Nov.)]
- 17-Hydroxysteroid Dehydrogenase Deficiency [MeSH concept]
- 17-Hydroxysteroid dehydrogenase deficiency [MeSH Supplementary Concept]
- 17-beta hydroxysteroid dehydrogenase 3 deficiency [DO Concept]
- 17-beta hydroxysteroid dehydrogenase III deficiency [OMIM Phenotype]
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [ORDO Disease]
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [ICD-11 More detail]
- Testosterone 17-beta-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- testosterone 17-beta-dehydrogenase deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17 beta hydroxysteroid dehydrogenase 3 deficiency [Disease (Nov.)]
- 17-Hydroxysteroid Dehydrogenase Deficiency [MeSH concept]
- 17-Hydroxysteroid dehydrogenase deficiency [MeSH Supplementary Concept]
- 17-beta hydroxysteroid dehydrogenase III deficiency [OMIM Phenotype]
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [ORDO Disease]
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [ICD-11 More detail]
- Testosterone 17-beta-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- testosterone 17-beta-dehydrogenase deficiency [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- HSD17B3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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