Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy. Disease data Classification Disease Synonyms Bilirubin uridinediphosphate glucuronosyltransferase deficiency Dziedziczna nieskoniugowana hiperbilirubinemia Niedobór bilirubiny-UGT Niedobór UGT Niedobór urydynodifosforanu glukuronylotransferazy bilirubiny Bilirubin-UGT deficiency ORPHA code 205 OMIM code 606785 ICD10 code E80.5 ICD11 code 5C58.00 *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