3B62.01
Inherited giant platelet disorder
Distúrbio hereditário das plaquetas gigantes
CategoryDefinition
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.
Index Terms
Inherited giant platelet disorderBernard-Soulier syndromegiant platelet syndromeBernard-Soulier thrombopathyMediterranean macrothrombocytopeniaMacrothrombocytopenia with mitral valve insufficiency