Hereditary Angioedema

Preferred Label : Hereditary Angioedema;

NCIt definition : Autosomal dominant inherited disorder characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites.;

Details

Origin ID

C84758;

UMLS CUI

C0019243;

Automatic exact mappings (from CISMeF team)
- Angioedema, hereditary [OMIM phenotypic series]
- serpin family G member 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Hereditary angioedema [ICD-11 Sub-sub category]
- Hereditary angioedema [HPO term]
- Hereditary angioedema [MedDRA Preferred Term]
- Hereditary angioedema [ORDO Disease]
- Hereditary angioedema (disorder) [SNOMED CT concept]
- angioedemas, hereditary [MeSH Descriptor]
- angioedemas, hereditary [MeSH concept]
- hereditary angioedema [DO Concept]
- hereditary angioedema [Disease (Nov.)]
- hereditary angioedema [Blood Transfusion thesaurus concept]
- hereditary angioneurotic edema [SNOMED Notion]
- hereditary angioneurotic edema [TUV Term]
- hereditary angioneurotic edema [TUV Concept]
DO Cross reference
- hereditary angioedema [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- C1 esterase inhibitor deficiency [MedDRA LLT]
- Hereditary angioedema [HPO term]
- Hereditary angioedema [ORDO Disease]
- Hereditary angioedema [ICD-11 Sub-sub category]
- Hereditary angioedema [MedDRA Preferred Term]
- Hereditary angioedema (disorder) [SNOMED CT concept]
- Hereditary angioedema C1 inhibitor deficiency [MedDRA LLT]
- angioedemas, hereditary [MeSH concept]
- angioedemas, hereditary [MeSH Descriptor]
- hereditary angioedema [DO Concept]
- hereditary angioedema [Disease (Nov.)]
- hereditary angioneurotic edema [TUV Concept]
- hereditary angioneurotic edema [TUV Term]
- hereditary angioneurotic edema [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
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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