Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Hirschsprung's disease

Synonyms

total intestinal aganglionosis

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

ID

http://purl.obolibrary.org/obo/DOID_10487

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD10CM:Q43.1

OMIM:606874

OMIM:611644

UMLS_CUI:C0019569

GARD:6660

SNOMEDCT_US_2022_09_01:204739008

ORDO:388

MESH:D006627

OMIM:606875

NCI:C34700

OMIM:608462

OMIM:600156

definition

A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

has exact synonym

total intestinal aganglionosis

Hirschsprung disease

congenital megacolon

aganglionic megacolon

macrocolon

pelvirectal achalasia

has_obo_namespace

disease_ontology

id

DOID:10487

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

Hirschsprung's disease

notation

DOID:10487

prefLabel

Hirschsprung's disease

subClassOf

http://purl.obolibrary.org/obo/DOID_11372

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http://purl.bioontology.org/ontology/ICD10/Q43.1 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.obolibrary.org/obo/DOID_10487 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_10487 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.bioontology.org/ontology/ICD10CM/Q43.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM