Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect

Preferred Label : Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect;

NCIt related terms : PHA1AD; Pseudohypoaldosteronism Type I Autosomal Dominant;

NCIt definition : An autosomal dominant condition presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone, associated with loss-of-function mutation(s) in the NR3C2 gene, encoding the mineralocorticoid receptor.;

Alternative definition : NICHD: An autosomal dominant condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the NR3C2 gene encoding the mineralocorticoid receptor.;

Details

Origin ID

C126810;

UMLS CUI

C4288934;

Automatic exact mappings (from CISMeF team)
- Pseudohypoaldosteronism, type I, autosomal dominant [OMIM Phenotype]
- pseudohypoaldosteronism [MeSH Descriptor]
- pseudohypoaldosteronism, type I, autosomal dominant [MeSH 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
- NR3C2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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