bartter syndrome

Preferred Label : bartter syndrome;

MeSH definition : A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.;

MeSH synonym : bartters disease; syndrome, bartter; bartter disease; bartter's disease; Bartter's Syndrome; Bartters Syndrome; Syndrome, Bartter's; juxtaglomerular hyperplasia with secondary aldosteronism; aldosteronism with hyperplasia of the adrenal cortex;

CISMeF synonym : disease, bartter's; disease, barter; disease, bartter; barter disease; barter's disease; barters disease; disease, barter's;

Details

Origin ID

D001477;

UMLS CUI

C0004775;

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)
- Aldosteronism with hyperplasia of the adrenal cortex [ICD-11 More detail]
- Dominant dystrophic epidermolysis bullosa with absence of skin (disorder) [SNOMED CT concept]
- Dystrophic epidermolysis bullosa [PASCAL descriptor]
- Juxtaglomerular hyperplasia with secondary aldosteronism [ICD-11 More detail]
- Other hyperaldosteronism [ICD-10 Sub-category]
- Other hyperaldosteronism [ICD-10 Sub-category (who)]
CISMeF manual mappings
- Bartter syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bartter Syndrome [NCIt concept]
- 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 [MedDRA Preferred Term]
- Bartter's syndrome [ICD-9 code]
DO Cross reference
- Bartter disease [DO Concept]
Manual BTNT mappings - CISMeF
- Antenatal Bartter syndrome [ORDO Disease]
- Bartter syndrome type 3 [ORDO Disease]
- Bartter syndrome type 4 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Channelopathy due to an inwardly rectifying potassium channel defect [ORDO Disease]
- Genetic renal tubular disease [ORDO Disease]
- Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly [ORDO Disease]
- Rare renal tubular disease [ORDO Disease]
ORDO relation(s)
- Bartter syndrome [ORDO Disease]
Record concept(s)
- bartter syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- bartter syndrome, antenatal , type 2 [MeSH Supplementary Concept]
- bartter syndrome, antenatal type 1 [MeSH Supplementary Concept]
- bartter syndrome, type 3 [MeSH Supplementary Concept]
- bartter syndrome, type 3, with hypocalciuria [MeSH Supplementary Concept]
- bartter syndrome, type 4A [MeSH Supplementary Concept]
- bartter syndrome, type 4b [MeSH Supplementary Concept]
- hypocalcemia, autosomal dominant, with bartter syndrome [MeSH Supplementary Concept]
- sensorineural deafness with mild renal dysfunction [MeSH Supplementary Concept]
See also
- Sodium-Potassium-Chloride symporters [MeSH Descriptor]
- dent disease [MeSH Descriptor]
- solute carrier family 12, member 1 [MeSH Descriptor]
See also (suggested by CISMeF)
- juxtaglomerular apparatus [MeSH Descriptor]
See also inter- (CISMeF)
- Pseudo-Bartter syndrome [MedDRA Preferred Term]
- Pseudoprimary aldosteronism (disorder) [Inactive SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bartter Syndrome [NCIt 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 [MedDRA Preferred Term]
- Bartter's syndrome [ICD-9 code]
- Bartter's syndrome with hypercalciuria and nephrocalcinosis (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Bartter syndrome, type 3 [OMIM Phenotype]

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