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Hirschsprung disease

^ http://purl.obolibrary.org/obo/MONDO_0018309

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. [ Orphanet:388 ]

Term info

database cross reference
  • MedDRA:10010539 (Orphanet:388/e)
  • OMIMPS:142623 (MONDO:equivalentTo)
  • GARD:0006660 (MONDO:equivalentTo)
  • DOID:10487 (MONDO:equivalentTo)
  • UMLS:C0019569 (Orphanet:388/e)
  • MESH:D006627 (Orphanet:388/e)
  • SCTID:204739008 (MONDO:equivalentTo)
  • UMLS:C3661523 (Orphanet:388)
  • NCIT:C34700 (MONDO:equivalentTo)
  • Orphanet:388 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
HSCR [ Orphanet:388 ]

closeMatch

http://identifiers.org/meddra/10010539

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://linkedlifedata.com/resource/umls/id/C3661523, http://purl.obolibrary.org/obo/NCIT_C34700, http://purl.obolibrary.org/obo/Orphanet_388, http://identifiers.org/snomedct/204739008, https://omim.org/phenotypicSeries/PS142623, http://linkedlifedata.com/resource/umls/id/C0019569, http://purl.obolibrary.org/obo/DOID_10487, http://identifiers.org/mesh/D006627

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0001273

has exact synonym

Hirschsprung's disease, Hirschsprung disease susceptibility, Hirschsprung disease, pelvirectal achalasia, aganglionic megacolon, HSCR, congenital megacolon, congenital intestinal aganglionosis

has related synonym

macrocolon

id

MONDO:0018309