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aganglionosis, total intestinal

^ http://purl.obolibrary.org/obo/MONDO_0008738

A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder. [ PMID:596929 NCIT:C101074 ]

Term info

database cross reference
  • MESH:C538058 (MONDO:equivalentTo)
  • OMIM:202550 (MONDO:equivalentTo)
  • NCIT:C101074 (MONDO:equivalentTo)
Subsets

n_of_one

definition

A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C101074, https://omim.org/entry/202550, http://identifiers.org/mesh/C538058

excluded subClassOf

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

has exact synonym

aganglionosis, total intestinal, total intestinal aganglionosis

id

MONDO:0008738