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Last uploaded: January 31, 2024

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Preferred Name	Hirschsprung Disease
Synonyms	Hirschsprungs Disease
Definitions	Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
ID	http://purl.bioontology.org/ontology/MESH/D006627
altLabel	Hirschsprungs Disease Rectosigmoid Colon Aganglionosis Congenital Megacolon Aganglionic Megacolon Megacolon, Congenital Hirschsprung's Disease Colonic Aganglionosis Total Colonic Aganglionosis Aganglionosis, Total Colonic Disease, Hirschsprung Rectosigmoid Aganglionosis Disease, Hirschsprung's Aganglionosis, Colonic Aganglionosis, Rectosigmoid Colon Congenital Intestinal Aganglionosis Megacolon, Aganglionic Aganglionosis, Rectosigmoid
AN	acquired megacolon = MEGACOLON
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0019569 C1257840 C0085758 C3661523
DC	1
definition	Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
DX	19830101
HN	83; was HIRSCHSPRUNG'S DISEASE see MEGACOLON 1963-82
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	83; was HIRSCHSPRUNG'S DISEASE see MEGACOLON 1963-82
Mapped from	http://purl.bioontology.org/ontology/MESH/C536467 http://purl.bioontology.org/ontology/MESH/C536990 http://purl.bioontology.org/ontology/MESH/C537279 http://purl.bioontology.org/ontology/MESH/C538120 http://purl.bioontology.org/ontology/MESH/C538121 http://purl.bioontology.org/ontology/MESH/C538119 http://purl.bioontology.org/ontology/MESH/C563939 http://purl.bioontology.org/ontology/MESH/C567679 http://purl.bioontology.org/ontology/MESH/C565817 http://purl.bioontology.org/ontology/MESH/C564519 http://purl.bioontology.org/ontology/MESH/C535915 http://purl.bioontology.org/ontology/MESH/C535916 http://purl.bioontology.org/ontology/MESH/C565517 http://purl.bioontology.org/ontology/MESH/C565518 http://purl.bioontology.org/ontology/MESH/C567680 http://purl.bioontology.org/ontology/MESH/C538540 http://purl.bioontology.org/ontology/MESH/C563789 http://purl.bioontology.org/ontology/MESH/C535615 http://purl.bioontology.org/ontology/MESH/C537235 http://purl.bioontology.org/ontology/MESH/C538319 http://purl.bioontology.org/ontology/MESH/C537882 http://purl.bioontology.org/ontology/MESH/C538058
MDA	19820427
MMR	20130708
MN	C06.405.469.158.701.439 C06.198.439 C16.131.314.439
notation	D006627
OL	search MEGACOLON 1966-82
prefLabel	Hirschsprung Disease
TERMUI	T019941 T528679 T528677 T019946 T019945 T019943 T841665 T019944 T019942 T811617 T811616 T528680 T528678
TH	OMIM (2013) NLM (2004) NLM (1992) UNK (19XX) GHR (2014) NLM (1983) ORD (2010)
tui	T047 T019
subClassOf	http://purl.bioontology.org/ontology/MESH/D008531 http://purl.bioontology.org/ontology/MESH/D004065

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D006627	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/X783b	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10034276	MDRGER	CUI
http://purl.bioontology.org/ontology/CSP/0724-7702	CRISP	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/204739008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/204739008	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICPC2P/D81007	ICPC2P	CUI
http://purl.bioontology.org/ontology/ICD10/Q43.1	ICD10	CUI
http://purl.bioontology.org/ontology/MEDDRA/10001472	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10027113	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10078849	MDRGER	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001542	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10034276	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRFRE/10001472	MDRFRE	CUI
http://purl.bioontology.org/ontology/WHO/1024	WHO-ART	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU003463	OMIM	CUI
http://purl.bioontology.org/ontology/MDRGER/10010539	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10001472	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10020109	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q43.1	ICD10CM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10034276	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10010539	MEDDRA	CUI
http://purl.bioontology.org/ontology/CST/ANOMALY%20GI	COSTART	CUI
http://purl.bioontology.org/ontology/MSHFRE/D006627	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10020109	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/PB30.	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU017167	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10078849	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICPC2P/D81001	ICPC2P	CUI
http://purl.bioontology.org/ontology/WHOFRE/1024	WHOFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU029053	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/D4-56560	SNMI	CUI
http://purl.bioontology.org/ontology/MEDDRA/10020109	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10010539	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10078849	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10027113	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10027113	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/360441005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/253780003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D006627	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012952	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/D4-56560	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253780003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/360441005	SCTSPA	CUI
http://purl.obolibrary.org/obo/MONDO_0018309	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018309	EFO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036885	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006627	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34700	NCIT	LOOM
http://localhost/plosthes.2017-1#3436	PLOSTHES	LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/LB16.1	VODANADISEASES	LOOM
http://nanbyodata.jp/ontology/NANDO_2200945	NANDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6151	OCHV	LOOM
http://nanbyodata.jp/ontology/NANDO_1200903	NANDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_647	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.198.439	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU003463	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIT_0007786	OMIT	LOOM
http://purl.obolibrary.org/obo/MONDO_0018309	DOVES	LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Hirschsprung_disease	RPO	LOOM
http://www.orpha.net/ORDO/Orphanet_388	ORDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C34700	BERO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.469.158.701.439	RH-MESH	LOOM
urn:agi-folder:hirschsprung_disease	BPT	LOOM
http://www.gamuts.net/entity#Hirschsprung_disease	GAMUTS	LOOM
http://purl.jp/bio/4/id/200906056031860646	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.314.439	RH-MESH	LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1087	IFAR	LOOM