Pseudohypoaldosteronism Type 1

Preferred Label : Pseudohypoaldosteronism Type 1;

NCIt related terms : Pseudohypoaldosteronism Type I Autosomal Recessive; PHA1B;

NCIt definition : A hereditary, heterogeneous disorder of electrolyte metabolism that is characterized by renal resistance to aldosterone action, resulting in salt wasting, hypotension, hyperkalemia, and metabolic acidosis.;

Alternative definition : NICHD: An autosomal recessive condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the SCNN1A, SCNN1B, or SCNN1G genes encoding subunits of the epithelial sodium channel (ENaC).;

Details

Origin ID

C123251;

UMLS CUI

C0268436;

Automatic exact mappings (from CISMeF team)
- pseudohypoaldosteronism, type I, autosomal recessive [MeSH concept]
Currated CISMeF NLP mapping
- Pseudohypoaldosteronism type 1 [PASCAL descriptor]
- Pseudohypoaldosteronism type 1 [ORDO Disease]
- Pseudohypoaldosteronism type 1 [ICD-11 Sub-sub category]
- Pseudohypoaldosteronism, type 1 (disorder) [SNOMED CT concept]
- autosomal recessive pseudohypoaldosteronism type 1 [DO Concept]
- pseudohypoaldosteronism type 1 [Disease (Nov.)]
- pseudohypoaldosteronism, type 1 [SNOMED Notion]
- pseudohypoaldosteronism, type I [MeSH concept]
DO Cross reference
- autosomal recessive pseudohypoaldosteronism type 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoaldosteronism type 1 [ORDO Disease]
- Pseudohypoaldosteronism type 1 [PASCAL descriptor]
- Pseudohypoaldosteronism, type 1 (disorder) [SNOMED CT concept]
- autosomal recessive pseudohypoaldosteronism type 1 [DO Concept]
- pseudohypoaldosteronism type 1 [Disease (Nov.)]
- pseudohypoaldosteronism, type 1 [SNOMED Notion]
- pseudohypoaldosteronism, type I [MeSH concept]
Validated automatic mappings to BTNT
- Pseudohypoaldosteronism, type ib1, autosomal recessive [OMIM Phenotype]
Validated automatic mappings to NTBT
- pseudohypoaldosteronism [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NR3C2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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