Hypereosinophilic syndrome, idiopathic

Preferred Label : Hypereosinophilic syndrome, idiopathic;

Symbol : HES;

CISMeF acronym : HES;

Type : Phenotype, molecular basis known;

Inheritance : Somatic mutation; Isolated cases;

Molecular basis : Caused by fusion of the FIP1-like 1 gene (FIP1L1, 607686) and the platelet-derived growth factor receptor-alpha gene (PDGFRA, 173490);

Prefixed ID : #607685;

Details

Origin ID

607685;

UMLS CUI

C0206141;

Automatic exact mappings (from CISMeF team)
- HES [ICHI extension code]
- Helium [NCIt concept]
- Hetastarch [NCIt concept]
- Hetastarch (substance) [SNOMED CT concept]
- Product containing hetastarch (medicinal product) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hypereosinophilic syndrome [MedDRA Preferred Term]
- Hypereosinophilic syndrome [ICD-O code]
- Hypereosinophilic syndrome [PASCAL descriptor]
- Hypereosinophilic syndrome [ORDO Disease]
- Idiopathic Hypereosinophilic Syndrome [NCIt concept]
- Idiopathic hypereosinophilic syndrome [ICD-11 More detail]
- Idiopathic hypereosinophilic syndrome [ORDO Disease]
- Idiopathic hypereosinophilic syndrome (disorder) [SNOMED CT concept]
- Idiopathic hypereosinophilic syndrome (morphologic abnormality) [SNOMED CT concept]
- hypereosinophilic syndrome [Disease (Nov.)]
- hypereosinophilic syndrome [DO Concept]
- hypereosinophilic syndrome [MeSH concept]
- hypereosinophilic syndrome [MeSH Descriptor]
- idiopathic hypereosinophilic syndrome [MeSH concept]
False automatic mappings
- HES [ICD-11 Extension code]
Genes related to phenotype
- Platelet-derived growth factor receptor, alpha [OMIM gene]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- Endocardial fibrosis [HPO term]
- Eosinophilia [HPO term]
- Hepatomegaly [HPO term]
- Isolated cases [HPO term]
- Myalgia [HPO term]
- Myeloproliferative disorder [HPO term]
- Pruritus [HPO term]
- Pulmonary infiltrates [HPO term]
- Restrictive cardiomyopathy [HPO term]
- Somatic mutation [HPO term]
- Splenomegaly [HPO term]
- Sporadic [HPO term]
- Venous thrombosis [HPO term]
ORDO concept(s)
- Idiopathic hypereosinophilic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Idiopathic hypereosinophilic syndrome [ORDO Disease]
- Idiopathic hypereosinophilic syndrome (disorder) [SNOMED CT concept]
- Idiopathic hypereosinophilic syndrome (morphologic abnormality) [SNOMED CT concept]
- idiopathic hypereosinophilic syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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