11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency

Preferred Label : 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency;

NCIt related terms : Apparent Mineralocorticoid Excess;

Alternative definition : NICHD: Decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s) in the HSD11B2 gene. Resultant elevated cortisol concentrations in the kidney activate the mineralocorticoid receptor, resulting in hypertension, hypokalemia, and hypernatremia.;

NCI Metathesaurus CUI : CL514197;

Details

Origin ID

C131083;

UMLS CUI

C5575027;

Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
See also inter- (CISMeF)
- 11-beta-Hydroxysteroid dehydrogenase type 2 [MeSH Descriptor]
- Apparent mineralocorticoid excess [OMIM Phenotype]
- Apparent mineralocorticoid excess [ORDO Disease]
- Apparent mineralocorticoid excess [MeSH concept]
- Apparent mineralocorticoid excess [ICD-11 More detail]
- Apparent mineralocorticoid excess [MedDRA Preferred Term]
- Apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
- Apparent mineralocorticoid excess syndrome [PASCAL descriptor]
- Syndrome of apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
- apparent mineralocorticoid excess [MeSH Supplementary Concept]
- apparent mineralocorticoid excess [DO Concept]
- mineralocorticoid excess syndrome, apparent [MeSH Descriptor]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Apparent mineralocorticoid excess [OMIM Phenotype]
- Apparent mineralocorticoid excess [ORDO Disease]
- Apparent mineralocorticoid excess [MedDRA Preferred Term]
- Apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
- apparent mineralocorticoid excess [MeSH Supplementary Concept]
- apparent mineralocorticoid excess [DO Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine System [NCIt concept]
disease_mapped_to_gene
- HSD11B2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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