Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss

Preferred Label : Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss;

NCIt definition : An autosomal dominant disorder caused by mutation(s) of the MYH9 gene, encoding myosin-9. Clinical features include thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, and may be associated with other organ dysfunction. It comprises the Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome-- all of which were previously believed to be distinct entities.;

NCI Metathesaurus CUI : CL950689;

Details

Origin ID

C158788;

UMLS CUI

C5200934;

CISMeF manual mappings
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MYH9-Related Disorders [MeSH Supplementary Concept]
- MYH9-related disease [MedDRA Preferred Term]
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM Phenotype]
- Myosin heavy chain 9 non muscle related disease (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- May-Hegglin anomaly [MedDRA LLT]
- May-Hegglin anomaly [ICD-11 More detail]
- May-Hegglin anomaly (disorder) [SNOMED CT concept]
- May-Hegglin anomaly (finding) [Inactive SNOMED CT concept]
- May-Hegglin thrombocytopenia [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus 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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