Gitelman Syndrome

Preferred Label : Gitelman Syndrome;

NCIt definition : An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.;

Alternative definition : NICHD: An inherited disorder caused by mutations in the SLC12A3 gene, characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.;

Details

Origin ID

C84730;

UMLS CUI

C0268450;

Currated CISMeF NLP mapping
- Familial hypokalaemia - hypomagnesaemia [ICD-11 More detail]
- Familial hypokalemia-hypomagnesemia (disorder) [Inactive SNOMED CT concept]
- Gitelman syndrome [PASCAL descriptor]
- Gitelman syndrome [DO Concept]
- Gitelman syndrome [Disease (Nov.)]
- Gitelman syndrome [OMIM Phenotype]
- Gitelman syndrome [ORDO Disease]
- Gitelman syndrome (disorder) [SNOMED CT concept]
- Gitelman's syndrome [MedDRA Preferred Term]
- familial hypokalemia-hypomagnesemia [SNOMED Notion]
- gitelman syndrome [MeSH Descriptor]
- gitelman syndrome [MeSH concept]
DO Cross reference
- Gitelman syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypokalaemia - hypomagnesaemia [ICD-11 More detail]
- Familial hypokalemia-hypomagnesemia (disorder) [Inactive SNOMED CT concept]
- Gitelman syndrome [ORDO Disease]
- Gitelman syndrome [OMIM Phenotype]
- Gitelman syndrome [PASCAL descriptor]
- Gitelman syndrome [DO Concept]
- Gitelman syndrome [Disease (Nov.)]
- Gitelman syndrome (disorder) [SNOMED CT concept]
- Gitelman's syndrome [MedDRA Preferred Term]
- familial hypokalemia-hypomagnesemia [SNOMED Notion]
- gitelman syndrome [MeSH concept]
- gitelman syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC12A3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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