Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Angioedema

Synonyms

Angiooedema

Angioneurotic oedema

Quincke oedema

Quincke edema

Definitions

Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation. Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.

ID

http://purl.obolibrary.org/obo/HP_0100665

comment

Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation.

creation date

2010-12-30T01:09:59Z

creator

https://orcid.org/0009-0006-4530-3154

database_cross_reference

UMLS:C0002994

SNOMEDCT_US:400075008

MSH:D000799

SNOMEDCT_US:41291007

definition

Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.

has exact synonym

Angiooedema

Angioneurotic oedema

Quincke oedema

Quincke edema

has_alternative_id

HP:0100666

id

HP:0100665

label

Angioedema

notation

HP:0100665

prefLabel

Angioedema

subClassOf

http://purl.obolibrary.org/obo/MP_0001785

http://purl.obolibrary.org/obo/HP_0011276

http://purl.obolibrary.org/obo/HP_0000969

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0100665 HP SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010481 MONDO LOOM
http://www.ebi.ac.uk/efo/EFO_0005532 EFO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18019 DERMLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002994 OCHV LOOM
http://purl.jp/bio/4/id/200906090751672077 IOBC LOOM
http://purl.obolibrary.org/obo/NCIT_C112175 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.543.480.904.066 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10002424 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0002205 OMIT LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Angioedema RPO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/41291007 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.079 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D000799 MESH LOOM
http://purl.bioontology.org/ontology/CST/ANGIOEDEMA COSTART LOOM
http://www.pepathway.org/peo/1.2#Angioedema PE-O LOOM
http://purl.obolibrary.org/obo/HP_0100665 HP LOOM
http://purl.bioontology.org/ontology/MEDDRA/10002394 MEDDRA LOOM
http://purl.bioontology.org/ontology/WHO/0003 WHO-ART LOOM
https://github.com/sap218/coid/blob/master/coid.owl#COID_00581 COID LOOM
http://purl.obolibrary.org/obo/DERMO_0003073 DERMO LOOM
http://purl.obolibrary.org/obo/ogms/OMRE_0000105 AERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085501 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0010481 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/846575004 SNOMEDCT LOOM
http://www.ebi.ac.uk/efo/EFO_0005532 EFO LOOM
http://purl.obolibrary.org/obo/DOID_1558 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1558 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1558 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1558 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1558 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1558 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_1558 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU010698 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000799 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D000799 MDM LOOM
http://www.co-ode.org/ontologies/galen#Angioedema GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.862.945.066 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C112175 NCIT LOOM