gitelman syndrome

Preferred Label : gitelman syndrome;

MeSH definition : An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.;

MeSH synonym : hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria; Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria; Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria; Syndrome, Gitelman; gitelman's syndrome; syndrome, gitelman's; tubular Hypomagnesemia-Hypokalemia with hypocalcuria; tubular hypomagnesemia hypokalemia with hypocalcuria; familial Hypokalemia-Hypomagnesemia; familial hypokalemia hypomagnesemia; Hypokalemia-Hypomagnesemia, familial; Potassium and Magnesium Depletion;

CISMeF synonym : Gitelman; Hypokalemia-Hypomagnesemias, familial; Primary Renotubular, Hypokalemia Hypomagnesemia with Hypocalciuria; Primary Renotubular, Hypomagnesemia Hypokalemia with Hypocalciuria; familial Hypokalemia-Hypomagnesemias; gitelmans syndrome;

Details

Origin ID

D053579;

UMLS CUI

C0268450;

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]
Currated CISMeF NLP mapping
- Familial hypokalaemia - hypomagnesaemia [ICD-11 More detail]
- Familial hypokalemia-hypomagnesemia (disorder) [Inactive SNOMED CT concept]
- Gitelman Syndrome [NCIt 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]
DO Cross reference
- Gitelman syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Genetic primary hypomagnesemia [ORDO Disease]
ORDO relation(s)
- Gitelman syndrome [ORDO Disease]
Record concept(s)
- gitelman syndrome [MeSH concept]
See also
- dent disease [MeSH Descriptor]
- sodium chloride symporters [MeSH Descriptor]
- solute carrier family 12, member 3 [MeSH Descriptor]
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 [NCIt concept]
- Gitelman syndrome [OMIM Phenotype]
- Gitelman syndrome [ORDO Disease]
- 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]

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