Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Angioedema

Synonyms

Angioneurotic oedema

Quincke edema

Quincke oedema

Angiooedema

Definitions

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. 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 All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE).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.

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 All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE).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

SNOMEDCT_US:400075008

SNOMEDCT_US:41291007

MSH:D000799

UMLS:C0002994

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_alternative_id

HP:0100666

has_exact_synonym

Angioneurotic oedema

Quincke edema

Quincke oedema

Angiooedema

has_obo_namespace

human_phenotype

id

HP:0100665

label

Angioedema

notation

HP:0100665

prefLabel

Angioedema

treeView

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

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

subClassOf

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

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

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http://www.ebi.ac.uk/efo/EFO_0005532 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_1558 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_1558 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D000799 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU010698 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C112175 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/MONDO_0010481 Mondo Disease Ontology / Mondo疾病本体 LOOM