Preferred Label : Congenital amegakaryocytic thrombocytopenia;
ICD-11 definition : Congenital amegakaryocytic thrombocytopenia is a rare autosomal recessive disease
characterized by an isolated severe hypomegakaryocytic thrombocytopenia during the
first years of life that develops into bone marrow failure and pancytopenia in later
childhood.;
Origin ID : 801723173;
Automatic exact mappings (from CISMeF team)
Congenital amegakaryocytic thrombocytopenia is a rare autosomal recessive disease
characterized by an isolated severe hypomegakaryocytic thrombocytopenia during the
first years of life that develops into bone marrow failure and pancytopenia in later
childhood.