Syndrome of Apparent Mineralocorticoid Excess

Preferred Label : Syndrome of Apparent Mineralocorticoid Excess;

Alternative definition : NICHD: An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.;

Details

Origin ID

C123231;

UMLS CUI

C0342488;

Currated CISMeF NLP mapping
- Apparent mineralocorticoid excess syndrome [PASCAL descriptor]
- Syndrome of apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
- apparent mineralocorticoid excess syndrome [DO Concept]
- mineralocorticoid excess syndrome, apparent [MeSH Descriptor]
- mineralocorticoid excess syndrome, apparent [MeSH concept]
DO Cross reference
- apparent mineralocorticoid excess syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Apparent mineralocorticoid excess [OMIM Phenotype]
- 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 syndrome [DO Concept]
- mineralocorticoid excess syndrome, apparent [MeSH Descriptor]
- mineralocorticoid excess syndrome, apparent [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_mapped_to_gene
- CYP11B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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