Aldosterone Synthase Deficiency

Preferred Label : Aldosterone Synthase Deficiency;

NCIt related terms : Corticosterone Methyl Oxidase Deficiency;

Alternative definition : NICHD: An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with reduced aldosterone synthesis and salt wasting.;

Details

Origin ID

C126813;

UMLS CUI

C4289986;

Automatic exact mappings (from CISMeF team)
- Familial hyperreninemic hypoaldosteronism type 1 [ORDO Disease]
- Familial hypoaldosteronism [ICD-11 More detail]
- corticosterone methyloxidase deficiency 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- CYP11B2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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