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3B62.01 Inherited giant platelet disorder

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

A disease caused by genetically inherited mutations. This disease is characterised by abnormally large platelets, low platelet count and a bleeding tendency. Confirmation is by identification of mutations through genetic testing.

code elsewhere

• MYH9 macrothrombocytopenia syndromes  (3B64.01)

synonyms

• Inherited giant platelet disorder
• Bernard-Soulier syndrome
• giant platelet syndrome
• Bernard-Soulier thrombopathy
• Mediterranean macrothrombocytopenia
• Macrothrombocytopenia with mitral valve insufficiency

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