Diarrhea 8, secretory sodium, congenital

Preferred Label : Diarrhea 8, secretory sodium, congenital;

Symbol : DIAR8;

CISMeF acronym : CSD; DIAR8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CSD; Diarrhea, congenital sodium;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 9, member-3 gene (SLC9A3, 182307.0001);

Laboratory abnormalities : Low urinary sodium concentrations; Elevated fecal sodium concentrations;

Prefixed ID : #616868;

Details

Origin ID

616868;

UMLS CUI

C5441928;

Automatic exact mappings (from CISMeF team)
- Cat-scratch disease [ICD-11 Category]
- Congenital secretory diarrhea, sodium type (disorder) [SNOMED CT concept]
- Congenital sodium diarrhea [ORDO Disease]
- TGFBI wt Allele [NCIt concept]
- cat scratch disease [MedlinePlus Topic]
- diarrhea 3, secretory sodium, congenital [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- congenital secretory sodium diarrhea 8 [DO Concept]
DO Cross reference
- congenital secretory sodium diarrhea 8 [DO Concept]
Genes related to phenotype
- Solute carrier family 9, member 3 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated fecal sodium [HPO term]
- Inflammation of the large intestine [HPO term]
- Polyhydramnios [HPO term]
- Secretory diarrhea [HPO term]
ORDO concept(s)
- Congenital sodium diarrhea [ORDO Disease]
See also inter- (CISMeF)
- congenital secretory sodium diarrhea 3 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital secretory diarrhea, sodium type (disorder) [SNOMED CT concept]
- Congenital sodium diarrhea [ORDO Disease]
- congenital secretory diarrhea, sodium type [SNOMED Notion]
- congenital secretory sodium diarrhea 3 [DO Concept]
- diarrhea 3, secretory sodium, congenital [MeSH concept]
- diarrhea 3, secretory sodium, congenital [MeSH Supplementary Concept]

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