congenital aganglionic megacolon
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
colon
|
| gptkbp:alsoKnownAs |
gptkb:Hirschsprung_disease
|
| gptkbp:associatedWith |
gptkb:Down_syndrome
|
| gptkbp:cause |
intestinal obstruction
|
| gptkbp:characterizedBy |
absence of ganglion cells in the colon
|
| gptkbp:commonIn |
males
|
| gptkbp:diagnosedBy |
rectal biopsy
|
| gptkbp:firstDescribed |
gptkb:Harald_Hirschsprung
1888 |
| gptkbp:geneticStudies |
RET gene mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital aganglionic megacolon
|
| gptkbp:ICD-10_code |
Q43.1
|
| gptkbp:MeSH_ID |
D006629
|
| gptkbp:onset |
neonatal period
|
| gptkbp:prevalence |
1 in 5000 live births
|
| gptkbp:symptom |
abdominal distension
failure to pass meconium chronic constipation |
| gptkbp:treatment |
surgical resection of affected bowel
|
| gptkbp:bfsParent |
gptkb:Hirschsprung's_disease
|
| gptkbp:bfsLayer |
6
|