Eosinophilia, familial

Preferred Label : Eosinophilia, familial;

CISMeF acronym : EOS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : EOS;

Description : Familial eosinophilia is a rare autosomal dominant disorder characterized by peripheral hypereosinophilia (greater than 500 eosinophils/micro liter of blood) with or without other oragn involvement (summary by Rioux et al., 1998).;

Inheritance : Autosomal dominant;

Prefixed ID : %131400;

Details

Origin ID

131400;

UMLS CUI

C0272192;

Automatic exact mappings (from CISMeF team)
- Eosinophil Count [NCIt concept]
Currated CISMeF NLP mapping
- Familial eosinophilia (disorder) [SNOMED CT concept]
- Hereditary eosinophilia (disorder) [SNOMED CT concept]
- eosinophilia, familial [MeSH concept]
- eosinophilia, familial [MeSH Supplementary Concept]
- familial eosinophilia [SNOMED Notion]
False automatic mappings
- Genus Eos (organism) [SNOMED CT concept]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Eosinophilia [HPO term]
- Leukocytosis [HPO term]
- Myocardial eosinophilic infiltration [HPO term]
- Pulmonary infiltrates [HPO term]
- Recurrent bronchitis [HPO term]
- Thrombocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial eosinophilia (disorder) [SNOMED CT concept]
- Hereditary eosinophilia (disorder) [SNOMED CT concept]
- eosinophilia, familial [MeSH Supplementary Concept]
- eosinophilia, familial [MeSH concept]
- familial eosinophilia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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