Congenital short bowel syndrome

Preferred Label : Congenital short bowel syndrome;

Symbol : CSBS;

CISMeF acronym : CSBS;

Type : Phenotype, molecular basis known;

Description : Infants with congenital short bowel syndrome are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by van der Werf et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coxsackievirus- and adenovirus receptor-like membrane protein gene (CLMP, 611693.0001);

Prefixed ID : #615237;

Details

Origin ID

615237;

UMLS CUI

C5441717;

Automatic exact mappings (from CISMeF team)
- FLNA wt Allele [NCIt concept]
- intestinal pseudo-obstruction [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital short bowel syndrome [ORDO Disease]
- Congenital short bowel syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Coxsackievirus- and adenovirus receptor-like membrane protein [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormal peristalsis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Congenital onset [HPO term]
- Congenital shortened small intestine [HPO term]
- Decreased intestinal transit time [HPO term]
- Dehydration [HPO term]
- Failure to thrive [HPO term]
- Infantile onset [HPO term]
- Intestinal atresia [HPO term]
- Intestinal malrotation [HPO term]
- Intolerance to protein [HPO term]
- Metabolic acidosis [HPO term]
- Projectile vomiting [HPO term]
- Steatorrhea [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Congenital short bowel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital short bowel syndrome (disorder) [SNOMED CT concept]
- Enteric neuropathy [MedDRA Preferred Term]
- Intestinal Pseudo-Obstruction [NCIt concept]
- Intestinal pseudo-obstruction [MedDRA LLT]
- Intestinal pseudo-obstruction [HPO term]
- Intestinal pseudo-obstruction [MedDRA Preferred Term]
- Pseudo-obstruction of intestine (disorder) [SNOMED CT concept]
- intestinal Pseudo-Obstruction [MeSH concept]
- intestinal pseudo-obstruction [MeSH Descriptor]
- intestinal pseudo-obstruction [Radlex concept]
- intestinal pseudo-obstruction [DO Concept]
- intestinal pseudoobstruction [Radlex concept]
- intestine pseudoobstruction [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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