National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Hereditary Angioedema Types I and II
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84757
code	C84757
DEFINITION	Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites. In type I hereditary angioedema, the plasma levels of C1 inhibitor are decreased. In type II hereditary angioedema, the C1 inhibitor is dysfunctional and its plasma levels may be normal or elevated.
label	Hereditary Angioedema Types I and II
Preferred_Name	Hereditary Angioedema Types I and II
prefixIRI	C84757
prefLabel	Hereditary Angioedema Types I and II
Semantic_Type	Disease or Syndrome
UMLS_CUI	C2717905
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84758

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D056829	Medical Subject Headings	LOOM