17-Hydroxysteroid dehydrogenase deficiency

Preferred Label : 17-Hydroxysteroid dehydrogenase deficiency;

MeSH synonym : neutral 17 beta-hydroxysteroid oxidoreductase deficiency; male pseudohermaphroditism with gynecomastia; 17 alpha ketosteroid reductase deficiency of testis; 17 beta-hydroxysteroid dehydrogenase deficiency; 17-Ketosteroid reductase deficiency of testis; neutral 17-Beta-Hydroxysteroid oxidoreductase deficiency; pseudohermaphroditism, male, with gynecomastia; 17-Beta hydroxysteroid dehydrogenase III deficiency; 17-Ksr deficiency; 17-Beta hydroxysteroid dehydrogenase 3 deficiency;

Details

Origin ID

C537805;

UMLS CUI

C0268296;

Automatic exact mappings (from CISMeF team)
- Hsd10 mitochondrial disease [OMIM Phenotype]
Currated CISMeF NLP mapping
- 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency [NCIt concept]
- 17-beta hydroxysteroid dehydrogenase III deficiency [OMIM Phenotype]
- Testosterone 17-beta-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- testosterone 17-beta-dehydrogenase deficiency [SNOMED Notion]
MeSH term(s) associated for indexing
- 17-Hydroxysteroid dehydrogenases [MeSH Descriptor]
- Disorder of Sex Development, 46,XY [MeSH Descriptor]
- gynecomastia [MeSH Descriptor]
- steroid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- 17-Hydroxysteroid Dehydrogenase Deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17 beta hydroxysteroid dehydrogenase 3 deficiency [Disease (Nov.)]
- 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency [NCIt 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]

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