Hereditary angioedema

ICD-11 code : 4A00.14;

Preferred Label : Hereditary angioedema;

ICD-11 definition : Hereditary angioedema is caused in the majority of cases by genetically determined low absolute (type I) or functional (type II) levels of C1 inhibitor, a plasma proteinase inhibitor involved in regulation of complement activation. It is characterized clinically by recurrent subcutaneous and/or submucosal oedema and can result in life-threatening laryngeal obstruction. Involvement of the digestive tract commonly causes abdominal pain. This and the absence of accompanying urticarial weals or itch distinguish it from the common form of angioedema, which is part of the spectrum of urticaria.;

ICD-11 synonym : Quincke disease or oedema; Bannister disease, hereditary; hereditary Quincke oedema; HAE - [hereditary angioneurotic oedema]; Familial angioedema; hereditary angioneurotic oedema;

ICD-11 acronym : HAE;

Details

Origin ID

795969334;

UMLS CUI

C0019243;

Automatic exact mappings (from CISMeF team)
- Angioosteohypertrophic syndrome [ORDO Disease]
- serpin family G member 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Hereditary Angioedema [NCIt concept]
- Hereditary angioedema [MedDRA Preferred Term]
- Hereditary angioedema [ORDO Disease]
- Hereditary angioedema [HPO term]
- 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]
ICD-10 Mapping
- Defects in the complement system [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- C1 esterase inhibitor deficiency [MedDRA LLT]
- Hereditary Angioedema [NCIt concept]
- Hereditary angioedema [HPO term]
- Hereditary angioedema [MedDRA Preferred Term]
- Hereditary angioedema [ORDO Disease]
- Hereditary angioedema (disorder) [SNOMED CT concept]
- Hereditary angioedema C1 inhibitor deficiency [MedDRA LLT]
- angioedemas, hereditary [MeSH Descriptor]
- angioedemas, hereditary [MeSH concept]
- hereditary angioedema [DO Concept]
- hereditary angioedema [Disease (Nov.)]
- hereditary angioneurotic edema [SNOMED Notion]
- hereditary angioneurotic edema [TUV Concept]
- hereditary angioneurotic edema [TUV Term]
Validated automatic mappings to NTBT
- Complement deficiency disease (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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