Bartter Syndrome, Type 1

Preferred Label : Bartter Syndrome, Type 1;

NCIt synonyms : BARTS1; Hypokalemic Alkalosis with Hypercalciuria 1, Antenatal; Hyperprostaglandin E Syndrome 1; Type 1 Bartter Syndrome;

NCIt definition : An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria.;

Details

Origin ID

C178412;

UMLS CUI

C1866495;

Currated CISMeF NLP mapping
- Bartter disease type 1 [DO Concept]
- Bartter syndrome antenatal type 1 (disorder) [SNOMED CT concept]
- Bartter syndrome type 1 [ICD-11 More detail]
- Bartter syndrome type 1 [ORDO Disease]
- Bartter syndrome, antenatal type 1 [MeSH concept]
- Bartter syndrome, type 1 [Disease (Nov.)]
- Bartter syndrome, type 1, antenatal [OMIM Phenotype]
- bartter syndrome, antenatal type 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bartter syndrome antenatal type 1 (disorder) [SNOMED CT concept]
- Bartter syndrome, antenatal type 1 [MeSH concept]
- Bartter syndrome, type 1 [Disease (Nov.)]
- Bartter syndrome, type 1, antenatal [OMIM Phenotype]
- bartter syndrome, antenatal type 1 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC12A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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