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hereditary angioedema

^ http://purl.obolibrary.org/obo/MONDO_0019623

Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. [ Orphanet:91378 ]

Term info

database cross reference
  • UMLS:CN239191 (MONDO:equivalentTo)
  • MESH:D054179 (MONDO:equivalentTo)
  • UMLS:C0019243 (Orphanet:91378)
  • OMIMPS:106100 (MONDO:equivalentTo)
  • NCIT:C84758 (MONDO:equivalentTo)
  • GARD:0005979 (MONDO:equivalentTo)
  • SCTID:82966003 (MONDO:equivalentTo)
  • DOID:14735 (MONDO:equivalentTo)
  • Orphanet:91378 (MONDO:equivalentTo)
  • MedDRA:10019860 (Orphanet:91378/e)
Subsets

ordo_disease

abbreviation
HAE [ Orphanet:91378 ]

abbreviation
HANE [ DOID:14735 ]

closeMatch

http://identifiers.org/meddra/10019860

definition

Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.

exactMatch

https://omim.org/phenotypicSeries/PS106100, http://identifiers.org/snomedct/82966003, http://purl.obolibrary.org/obo/NCIT_C84758, http://linkedlifedata.com/resource/umls/id/CN239191, http://linkedlifedata.com/resource/umls/id/C0019243, http://purl.obolibrary.org/obo/DOID_14735, http://identifiers.org/mesh/D054179, http://purl.obolibrary.org/obo/Orphanet_91378

has exact synonym

hereditary angioedema, HANE, hereditary non histamine-induced angioedema, hereditary angioneurotic edema, hereditary bradykinine-induced angioedema, HAE, familial angioneurotic edema

has related synonym

angioedema, hereditary, deficiency of C1 esterase inhibitor

id

MONDO:0019623

Term relations

Equivalent to: