Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies

Preferred Label : Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies;

Symbol : DIAR3;

CISMeF acronym : CSD; DIAR3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Diarrhea 3, secretory sodium, congenital, syndromic; CSD; Sodium diarrhea, congenital;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the serine protease inhibitor, Kunitz-type, 2 gene (SPINT2, 605124.0001);

Prefixed ID : #270420;

Details

Origin ID

270420;

UMLS CUI

C5441927;

Automatic exact mappings (from CISMeF team)
- Cat-scratch disease [ICD-11 Category]
- TGFBI wt Allele [NCIt concept]
- cat scratch disease [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Congenital secretory diarrhea, sodium type (disorder) [SNOMED CT concept]
- Congenital sodium diarrhea [ORDO Disease]
- Congenital sodium diarrhoea [ICD-11 More detail]
- 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]
- diarrhea 3, secretory sodium, congenital, syndromic [MeSH concept]
DO Cross reference
- congenital secretory sodium diarrhea 3 [DO Concept]
Genes related to phenotype
- Serine peptidase inhibitor, kunitz-type, 2 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choanal atresia [HPO term]
- Corneal erosion [HPO term]
- Cutis laxa [HPO term]
- Hypertelorism [HPO term]
- Intestinal malrotation [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Optic disc coloboma [HPO term]
- Polyhydramnios [HPO term]
- Rectovaginal fistula [HPO term]
- Secretory diarrhea [HPO term]
- Ureteral duplication [HPO term]
ORDO concept(s)
- Congenital sodium diarrhea [ORDO Disease]
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 Supplementary Concept]
- diarrhea 3, secretory sodium, congenital [MeSH concept]

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