Hypokalemic alkalosis, familial, with specific renal tubulopathy

Preferred Label : Hypokalemic alkalosis, familial, with specific renal tubulopathy;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Hypokalemia, familial; Gullner syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : %241150;

Détails

Origin ID

241150;

UMLS CUI

C0268444;

Currated CISMeF NLP mapping
- Familial hypokalemic alkalosis, Gullner type (disorder) [SNOMED CT concept]
- familial hypokalemic alkalosis, gullner type [SNOMED Notion]
- hypokalemia, familial [MeSH concept]
- hypokalemia, familial [MeSH Supplementary Concept]
HPO term(s)
- Abnormal magnesium concentration [HPO term]
- Autosomal recessive inheritance [HPO term]
- Fatigue [HPO term]
- Hypokalemia [HPO term]
- Hypokalemic alkalosis [HPO term]
- Increased circulating renin level [HPO term]
- Increased serum prostaglandin E2 [HPO term]
- Muscle spasm [HPO term]
- Nausea [HPO term]
- Proximal tubulopathy [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypokalemic alkalosis, Gullner type (disorder) [SNOMED CT concept]
- familial hypokalemic alkalosis, gullner type [SNOMED Notion]
- hypokalemia, familial [MeSH Supplementary Concept]
- hypokalemia, familial [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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