Familial Hyperaldosteronism Type 3

Preferred Label : Familial Hyperaldosteronism Type 3;

Alternative definition : NICHD: Familial hyperaldosteronism caused by a mutation in the KCNJ5 gene, which encodes the inwardly rectifying potassium channel. This condition, characterized by hypokalemia and severe hypertension, presents during early childhood, and is unresponsive to glucocorticoid therapy.;

Details

Origin ID

C127163;

UMLS CUI

C3838758;

Automatic exact mappings (from CISMeF team)
- Familial hyperaldosteronism type 3 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Familial hyperaldosteronism type 3 (disorder) [SNOMED CT concept]
- Familial hyperaldosteronism type III [ORDO Disease]
- Hyperaldosteronism, familial, type III [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hyperaldosteronism type 3 (disorder) [SNOMED CT concept]
- Hyperaldosteronism, familial, type III [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- KCNJ5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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