Svensk definition
En ärftlig form av medfödd hyperbilirubinemi som är autosomalt recessiv. Dess kännetecken är gulsot och hjärnskada till följd av en glukuronyltransferasdefekt och felaktig bilirubinkonjugation.
Crigler-Najjar Syndrome
Crigler-Najjars syndrom
Engelsk definition
A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Hereditary Unconjugated Hyperbilirubinemia — Hereditary Unconjugated Hyperbilirubinemias — Hyperbilirubinemia, Hereditary Unconjugated — Unconjugated Hyperbilirubinemia, Hereditary — Familial Nonhemolytic Unconjugated Hyperbilirubinemia — Crigler Najjar Syndrome — Crigler Najjar Syndromes — Najjar Syndrome, Crigler — Syndrome, Crigler Najjar — Crigler-Najar Syndrome — Crigler Najar Syndrome — Crigler Najjar Syndrome, Type 1 — Crigler-Najjar Syndrome, Type I — Crigler Najjar Syndrome, Type I