Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. Disease data Classification Disease Synonyms Congenital erythrocytosis due to erythropoietin receptor mutation PFCP Pierwotna rodzinna i wrodzona policytemia Pierwotna wrodzona erytrocytoza Rodzinna erytrocytoza Wrodzona erytrocytoza z powodu mutacji receptora erytropoetyny Wrodzona policytemia z powodu mutacji receptora erytropoetyny Congenital polycythemia due to erythropoietin receptor mutation Familial erythrocytosis PFCP Primary congenital erythrocytosis Primary familial and congenital polycythemia ORPHA code 90042 OMIM code 133100 ICD10 code D75.0 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl