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3B64.01 Hereditary thrombocytopenia

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

A disease caused by a genetically inherited mutation leading to decreased platelet count. This disease is characterised by decreased levels of platelets within the blood. This disease may present with increased bruising or haemorrhaging. Confirmation is by identification of decreased platelet count in a blood sample.

code elsewhere

• Thrombocytopaenia - absent radius  (LD2F.1Y)
• Familial platelet syndrome with predisposition to acute myelogenous leukaemia  (3B62.3)
• Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency  (3B64.14)
• Macrothrombocytopenia with mitral valve insufficiency  (3B62.01)

synonyms

• Hereditary thrombocytopenia
• Congenital amegakaryocytic thrombocytopenia
• MYH9 macrothrombocytopenia syndromes
• MYH9-related disease
• May-Hegglin thrombocytopenia
• Fechtner syndrome
• Epstein syndrome
• Sebastian syndrome
• Paris-Trousseau thrombocytopenia
• Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
• ATRUS - [amegakaryocytic thrombocytopenia radioulnar syndrome]

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