11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency

Preferred Label : 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency;

NCIt related terms : Cortisone Reductase Deficiency Type 2;

Alternative definition : NICHD: Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.;

NCI Metathesaurus CUI : CL514198;

Details

Origin ID

C131084;

UMLS CUI

C4329210;

Automatic exact mappings (from CISMeF team)
- 11-beta-hydroxysteroid dehydrogenase type 1 [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hyperandrogenism due to cortisone reductase deficiency [ICD-11 More detail]
- Hyperandrogenism due to cortisone reductase deficiency [ORDO Disease]
- Hyperandrogenism due to cortisone reductase deficiency (disorder) [SNOMED CT concept]
- cortisone reductase deficiency [MeSH Supplementary Concept]
- cortisone reductase deficiency 1 [DO Concept]
DO Cross reference
- cortisone reductase deficiency 2 [DO Concept]
See also inter- (CISMeF)
- Cortisone reductase deficiency 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperandrogenism due to cortisone reductase deficiency (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- HSD11B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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