Bartter Syndrome

Preferred Label : Bartter Syndrome;

NCIt synonyms : Bartter's Syndrome; Hypokalemic Alkalosis; Bartter s Syndrome;

NCIt definition : A rare inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Patients have high levels of plasma renin concentration which is not associated with hypertension.;

Alternative definition : NICHD: A rare, inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Affected individuals have high concentration of plasma renin that is not associated with hypertension.;

Details

Origin ID

C34412;

UMLS CUI

C0004775;

Automatic exact mappings (from CISMeF team)
- Alkalosis hypokalemic [MedDRA LLT]
- Bartter syndrome type 3 [ORDO Disease]
- Bartter syndrome, type 3 [MeSH concept]
- Dominant dystrophic epidermolysis bullosa with absence of skin (disorder) [SNOMED CT concept]
- Dystrophic epidermolysis bullosa [PASCAL descriptor]
- Hypokalemic alkalosis [MedDRA LLT]
- Hypokalemic alkalosis [HPO term]
- Hypokalemic alkalosis (disorder) [SNOMED CT concept]
- Other hyperaldosteronism [ICD-10 Sub-category]
- Other hyperaldosteronism [ICD-10 Sub-category (who)]
- bartter syndrome, type 3 [MeSH Supplementary Concept]
- hypokalemic alkalosis [SNOMED Notion]
CISMeF manual mappings
- Bartter syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bartter disease [DO Concept]
- Bartter syndrome [PASCAL descriptor]
- Bartter syndrome [Disease (Nov.)]
- Bartter syndrome [ICD-11 Sub-sub category]
- Bartter syndrome [OMIM phenotypic series]
- Bartter syndrome [ORDO Disease]
- Bartter's syndrome [ICD-9 code]
- Bartter's syndrome [MedDRA Preferred Term]
- Pseudoprimary aldosteronism (disorder) [Inactive SNOMED CT concept]
- bartter syndrome [MeSH Descriptor]
- bartter syndrome [MeSH concept]
- pseudoprimary aldosteronism [SNOMED Notion]
DO Cross reference
- Bartter disease [DO Concept]
See also inter- (CISMeF)
- Alkalosis hypokalaemic [MedDRA Preferred Term]
- Alkalosis hypokalemic [MedDRA LLT]
- Hypokalaemic alkalosis [MedDRA LLT]
- Hypokalemic alkalosis [HPO term]
- Hypokalemic alkalosis [MedDRA LLT]
- Hypokalemic alkalosis (disorder) [SNOMED CT concept]
- hypokalemic alkalosis [SNOMED Notion]
- hypokalemic alkalosis [Disease (Nov.)]
- pseudohyperaldosteronism [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bartter disease [DO Concept]
- Bartter syndrome [ORDO Disease]
- Bartter syndrome [PASCAL descriptor]
- Bartter syndrome [Disease (Nov.)]
- Bartter syndrome (disorder) [SNOMED CT concept]
- Bartter's syndrome [ICD-9 code]
- Bartter's syndrome [MedDRA Preferred Term]
- Bartter's syndrome with hypercalciuria and nephrocalcinosis (disorder) [SNOMED CT concept]
- bartter syndrome [MeSH Descriptor]
- bartter syndrome [MeSH concept]
Validated automatic mappings to BTNT
- Bartter syndrome, type 3 [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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