Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

obsolete_Hirschsprung disease

Synonyms

HSCR

Aganglionic megacolon

Congenital intestinal aganglionosis

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://www.orpha.net/ORDO/Orphanet_388

Obsolete

true

database_cross_reference

OMIM:613870

OMIM:611644

OMIM:142623

OMIM:606875

OMIM:606874

OMIM:613712

OMIM:613711

OMIM:608462

OMIM:600155

OMIM:600156

MedDRA:10010539

MedDRA:10027113

UMLS:C0019569

MeSH:D006627

ICD10:Q43.1

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.

definition_citation

orphanet

deprecated

true

has_exact_synonym

Congenital intestinal aganglionosis

Aganglionic megacolon

HSCR

label

obsolete_Hirschsprung disease

obsoleted_in_version

3.41.0

prefLabel

obsolete_Hirschsprung disease

reason_for_obsolescence

Replaced with Mondo term.

term replaced by

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

subClassOf

http://www.w3.org/2002/07/owl#Thing

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http://www.orpha.net/ORDO/Orphanet_388 ORDO SAME_URI