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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Hirschsprung disease
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Accession:EFO:MONDO:0018309 term browser browse the term
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.
Synonyms:exact_synonym: DOID:10487;   HSCR;   Hirschsprung disease susceptibility;   Hirschsprung's disease;   NCIT:C34700;   Orphanet:388;   aganglionic megacolon;   congenital intestinal aganglionosis;   congenital megacolon;   http://identifiers.org/medgen/5559;   http://identifiers.org/mesh/D006627;   http://identifiers.org/snomedct/204739008;   http://linkedlifedata.com/resource/umls/id/C0019569;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1772690306;   https://omim.org/phenotypicSeries/PS142623;   pelvirectal achalasia
 synonym: http://identifiers.org/meddra/10010539
 related_synonym: macrocolon
 alt_id: MONDO:0018309
 xref: DOID:10487;   GARD:6660;   MEDGEN:5559;   MESH:D006627;   MIM:PS142623;   MedDRA:10010539;   NANDO:1200903;   NANDO:2200945;   NANDO:2200948;   NCI:C34700;   NORD:1244;   ORDO:388;   SCTID:204739008;   UMLS:C0019569;   icd11.foundation:1772690306


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Hirschsprung disease 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          digestive system disease 0
            gastrointestinal disease 0
              intestinal disease 0
                intestinal motility disease 0
                  Hirschsprung disease 0
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