loading...| Preferred Name |
Congenital short bowel syndrome |
|
| Synonyms |
|
|
| Definitions |
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2301 |
|
| definition |
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive X-linked recessive |
|
| hasDbXref |
OMIM:615237 ICD-10:Q43.8 OMIM:300048 ICD-11:LB15.2 UMLS:C5441717 |
|
| label |
Congenital short bowel syndrome |
|
| notation |
ORPHA:2301 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_2301 |
|
| prefLabel |
Congenital short bowel syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 43.0 (Case) |
|
| treeView | ||
| subClassOf |