Hereditary Angioedema Types I and II

Preferred Label : Hereditary Angioedema Types I and II;

NCIt 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.;

Details

Origin ID

C84757;

UMLS CUI

C2717905;

Currated CISMeF NLP mapping
- hereditary angioedema types I and II [MeSH Descriptor]
- hereditary angioedema types I and II [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hereditary angioedema types I and II [MeSH concept]
- hereditary angioedema types I and II [MeSH Descriptor]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SERPING1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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