3A80.0
Primary inherited erythrocytosis
Eritrocitose primária hereditária
CategoryDefinition
A disease caused by genetically inherited factors leading to changes in the concentration of red blood cells. This disease is characterised by having a high concentration of red blood cells in the body leading to slow flow of blood. Confirmation is by identification of mutations by genetic testing.
Index Terms
Primary inherited erythrocytosisPrimary familial polycythaemiaPrimary inherited polycythaemiaPolycythaemia due to HIF2A mutationPolycythaemia due to PHD2 mutationPolycythaemia due to VHL mutationChuvash polycythaemiaVon Hippel-Lindau-dependent polycythaemiaChuvash erythrocytosisPrimary familial polycythaemia due to EPOR mutationPrimary familial polycythaemia due to other mutations