Congenital thrombotic thrombocytopenic purpura
MONDO:0010122Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
Also known as: Upshaw-Schulman syndrome, congenital ADAMTS-13 deficiency, congenital ADAMTS13 deficiency, congenital TTP, congenital thrombotic thrombocytopenic purpura, familial TTP, hereditary thrombotic thrombocytopenic purpura, thrombotic thrombocytopenic purpura, hereditary
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