Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. Disease data Classification Disease Synonyms 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency BASD1 Niedobór oksydoreduktazy 3-beta-hydroksy-delta-5-C27-steroidowej BASD1 ORPHA code 79301 OMIM code 607765 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