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hereditary angioedema

Go to external page 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 ]

Synonyms: HANE hereditary angioedema familial angioneurotic oedema hereditary non histamine-induced angioedema hereditary angioneurotic edema hereditary bradykinine-induced angioedema HAE familial angioneurotic edema hereditary angioneurotic oedema

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:9229 (MONDO:equivalentTo)
  • Orphanet:91378 (MONDO:equivalentTo)
  • NCIT:C84758 (MONDO:equivalentTo)
  • NANDO:2200795 (https://orcid.org/0000-0003-0011-764X)
  • GARD:5979 (MONDO:GARD)
  • DOID:14735 (MONDO:equivalentTo)
  • UMLS:C0019243 (MONDO:equivalentTo)
  • OMIMPS:106100 (MONDO:equivalentTo)
  • SCTID:82966003 (MONDO:equivalentTo)
  • MESH:D054179 (MONDO:equivalentTo)
  • NANDO:1200365 (https://orcid.org/0000-0003-0011-764X)
  • MedDRA:10019860 (Orphanet:91378/e)
  • icd11.foundation:795969334 (Orphanet:91378)
Subsets

gard_rare, matrix_llm__is_cancer_other, mondo_top_grouping_integumentary_system_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, harrisons_view_inflammatory_disease, matrix_txgnn_grouping_member, rare, mondo_top_grouping_inflammatory_disease, mondo_top_grouping_cardiovascular_disorder, harrisons_view_integumentary_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_cardiovascular_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cardiovascular_disorder, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders

abbreviation
HANE [ DOID:14735 ]

UK spelling synonym
hereditary angioneurotic oedema [ icd11.foundation:795969334 ]

abbreviation
HAE [ Orphanet:91378 ]

UK spelling synonym
familial angioneurotic oedema

closeMatch

http://identifiers.org/meddra/10019860

contributor

https://orcid.org/0000-0002-1149-7767

https://orcid.org/0000-0003-2955-4640

exactMatch

http://www.orpha.net/ORDO/Orphanet_91378

https://omim.org/phenotypicSeries/PS106100

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/795969334

http://identifiers.org/snomedct/82966003

http://purl.obolibrary.org/obo/NCIT_C84758

http://linkedlifedata.com/resource/umls/id/C0019243

http://purl.obolibrary.org/obo/DOID_14735

http://identifiers.org/mesh/D054179

http://identifiers.org/medgen/9229

has related synonym

angioedema, hereditary

deficiency of C1 esterase inhibitor

id

MONDO:0019623

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

Term relations