Preferred Name |
Hirschsprung disease |
|
Synonyms |
pelvirectal achalasia congenital intestinal aganglionosis congenital megacolon Hirschsprung disease susceptibility Hirschsprung disease aganglionic megacolon Hirschsprung's disease HSCR macrocolon |
|
Definitions |
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0018309 |
|
closeMatch | ||
database_cross_reference |
MESH:D006627 NCIT:C34700 Orphanet:388 icd11.foundation:1772690306 MedDRA:10010539 OMIMPS:142623 SCTID:204739008 NANDO:2200945 NANDO:2200948 NANDO:1200903 UMLS:C0019569 DOID:10487 GARD:6660 NORD:1244 |
|
definition |
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. |
|
exactMatch |
http://purl.obolibrary.org/obo/DOID_10487 http://identifiers.org/snomedct/204739008 http://purl.obolibrary.org/obo/Orphanet_388 http://purl.obolibrary.org/obo/NCIT_C34700 http://linkedlifedata.com/resource/umls/id/C0019569 |
|
gwas_trait |
true |
|
has_exact_synonym |
pelvirectal achalasia congenital intestinal aganglionosis congenital megacolon Hirschsprung disease susceptibility Hirschsprung disease aganglionic megacolon Hirschsprung's disease HSCR |
|
has_related_synonym |
macrocolon |
|
id |
MONDO:0018309 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
label |
Hirschsprung disease |
|
notation |
MONDO:0018309 |
|
prefLabel |
Hirschsprung disease |
|
subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000508 |