MYH9 macrothrombocytopenia syndromes

Preferred Label : MYH9 macrothrombocytopenia syndromes;

ICD-11 definition : MYH9-related disease is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease.;

ICD-11 synonym : MYH9-related disease;

Details

Origin ID

109013938;

Automatic exact mappings (from CISMeF team)
- MYH9-related disease [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- MYH9 macrothrombocytopenia syndrome (disorder) [SNOMED CT concept]
- MYH9-Related Disorders [MeSH Supplementary Concept]
- MYH9-related disease [ORDO Disease]
- Myosin heavy chain 9 non muscle related disease (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Epstein syndrome [OMIM Phenotype]
- Epstein syndrome [ORDO Disease]
- Epstein syndrome (disorder) [SNOMED CT concept]
- Macrothrombocytopenia and progressive sensorineural deafness [OMIM Phenotype]

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