liddle syndrome

Preferred Label : liddle syndrome;

MeSH definition : Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.;

MeSH synonym : Syndrome, Liddle; Pseudoaldosteronism;

CISMeF synonym : Liddle; liddle's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Pseudoaldosteronism;

Details

Origin ID

D056929;

UMLS CUI

C0221043;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Liddle syndrome [OMIM phenotypic series]
- Pseudo aldosteronism [MedDRA LLT]
- Pseudohyperaldosteronism [MedDRA LLT]
- Pseudohyperaldosteronism type 1 [ICD-11 More detail]
- sodium channel epithelial 1 subunit beta [ORDO Gene]
- sodium channel epithelial 1 subunit beta [HGNC gene]
Currated CISMeF NLP mapping
- Liddle Syndrome [NCIt concept]
- Liddle syndrome [DO Concept]
- Liddle syndrome [ORDO Disease]
- Liddle syndrome 1 [OMIM Phenotype]
- Liddle's syndrome [MedDRA Preferred Term]
- Pseudoaldosteronism [MedDRA Preferred Term]
- Pseudoprimary aldosteronism (disorder) [Inactive SNOMED CT concept]
- Pseudoprimary hyperaldosteronism (disorder) [SNOMED CT concept]
- pseudohyperaldosteronism [Disease (Nov.)]
- pseudoprimary aldosteronism [SNOMED Notion]
DO Cross reference
- Liddle syndrome [DO Concept]
Has phenotype(s) (HPO)
- Hypoaldosteronism [HPO term]
Manual NTBT mappings (CISMeF)
- Channelopathy due to an epithelial sodium channel defect [ORDO Disease]
- Rare cause of hypertension [ORDO Disease]
- Rare genetic cause of hypertension [ORDO Disease]
ORDO relation(s)
- Liddle syndrome [ORDO Disease]
Record concept(s)
- liddle syndrome [MeSH concept]
See also
- epithelial sodium channels [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Liddle Syndrome [NCIt 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]
- pseudohyperaldosteronism [Disease (Nov.)]
- pseudoprimary aldosteronism [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients