Epstein Syndrome

Preferred Label : Epstein Syndrome;

Alternative definition : NICHD: An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene.;

Details

Origin ID

C131639;

UMLS CUI

C0398641;

Automatic exact mappings (from CISMeF team)
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]
Currated CISMeF NLP mapping
- Epstein syndrome [ICD-11 More detail]
- Epstein syndrome [OMIM Phenotype]
- Epstein syndrome [ORDO Disease]
- Epstein syndrome [Disease (Nov.)]
- Epstein syndrome (disorder) [SNOMED CT concept]
- MYH9-Related disorders [MeSH concept]
See also inter- (CISMeF)
- MYH9-Related Disorders [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epstein syndrome [ORDO Disease]
- Epstein syndrome [OMIM Phenotype]
- Epstein syndrome [Disease (Nov.)]
- Epstein syndrome [ICD-11 More detail]
- Epstein syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MYH9 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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