Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. Disease data Classification Clinical subtype Synonyms BSEP deficiency Niedobór BSEP PFIC2 PFIC2 ORPHA code 79304 OMIM code 601847 ICD10 code K76.8 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