3B64.01
Hereditary thrombocytopenia
Trombocitopenia hereditária
CategoryDefinition
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.
Index Terms
Hereditary thrombocytopeniaCongenital amegakaryocytic thrombocytopeniaMYH9 macrothrombocytopenia syndromesMYH9-related diseaseMay-Hegglin thrombocytopeniaFechtner syndromeEpstein syndromeSebastian syndromeParis-Trousseau thrombocytopeniaRadio-ulnar synostosis - amegakaryocytic thrombocytopeniaATRUS - [amegakaryocytic thrombocytopenia radioulnar syndrome]