Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. Disease data Classification Disease Synonyms CHC type 2 CHC typu 2 Kriohydrocytoza dziedziczna typu 2 Kriohydrocytoza z niedoborem stomatyny sdCHC Hereditary cryohydrocytosis type 2 Stomatin-deficient cryohydrocytosis sdCHC ORPHA code 168577 OMIM code 608885 ICD10 code D58.8 ICD11 code 3A10.Y *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