Liddle Syndrome

Preferred Label : Liddle Syndrome;

NCIt definition : An autosomal dominant inherited syndrome caused by dysregulation of the amiloride-sensitive sodium channel. It is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin and hypoaldosteronism.;

Alternative definition : NICHD: An autosomal dominant syndrome caused by dysregulation of the amiloride-sensitive sodium channel, which is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin, and hypoaldosteronism.;

Details

Origin ID

C84827;

UMLS CUI

C0221043;

Automatic exact mappings (from CISMeF team)
- Liddle syndrome [OMIM phenotypic series]
- Pseudohyperaldosteronism type 1 [ICD-11 More detail]
- sodium channel epithelial 1 subunit beta [ORDO Gene]
- sodium channel epithelial 1 subunit beta [HGNC gene]
DO Cross reference
- Liddle syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Liddle syndrome [ORDO Disease]
- Liddle syndrome [DO Concept]
- Liddle syndrome 1 [OMIM Phenotype]
- Liddle's syndrome [MedDRA Preferred Term]
- Pseudo aldosteronism [MedDRA LLT]
- Pseudoaldosteronism [MedDRA Preferred Term]
- Pseudohyperaldosteronism [MedDRA LLT]
- Pseudoprimary aldosteronism (disorder) [Inactive SNOMED CT concept]
- Pseudoprimary hyperaldosteronism (disorder) [SNOMED CT concept]
- liddle syndrome [MeSH concept]
- liddle syndrome [MeSH Descriptor]
- pseudohyperaldosteronism [Disease (Nov.)]
- pseudoprimary aldosteronism [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- SCNN1A Gene [NCIt concept]
- SCNN1B Gene [NCIt concept]
- SCNN1G Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients