Familial hypokalaemia - hypomagnesaemia

Preferred Label : Familial hypokalaemia - hypomagnesaemia;

ICD-11 definition : Gitelman syndrome, also referred to as familial hypokalemia-hypomagnesemia, is a genetic renal tubular disease characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.;

ICD-11 synonym : Gitelman syndrome; Primary renal tubular hypokalaemic hypomagnesaemia with hypocalciuria;

Details

Origin ID

1177986055;

UMLS CUI

C0268450;

Currated CISMeF NLP mapping
- Gitelman Syndrome [NCIt concept]
- Gitelman syndrome [ORDO Disease]
- Gitelman syndrome [OMIM Phenotype]
- Gitelman syndrome [DO Concept]
- Gitelman syndrome [PASCAL descriptor]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypokalemia-hypomagnesemia (disorder) [Inactive SNOMED CT concept]
- Gitelman Syndrome [NCIt concept]
- Gitelman syndrome [DO Concept]
- Gitelman syndrome [OMIM Phenotype]
- Gitelman syndrome [Disease (Nov.)]
- Gitelman syndrome [ORDO Disease]
- Gitelman syndrome [PASCAL descriptor]
- 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]

Keyword's position in hierarchy(ies) :

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