" /> Crigler-Najjar syndrome type 2 - CISMeF





Preferred Label : Crigler-Najjar syndrome type 2;

ICD-11 definition : Type 2 Crigler-Najjar syndrome is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms). First clinical manifestations usually appear soon after birth. CNS2 patients are less severely jaundiced than CNS1 patients, have pigmented bile that contains bilirubin glucuronides, and generally do not present neurologic or intellectual impairment. Bilirubin encephalopathy may develop in later life when patients experience a superimposed infection or stress.;

ICD-11 synonym : Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2; Bilirubin-UGT deficiency type 2; CNS2 - [Crigler-Najjar syndrome type 2]; Arias syndrome; Hereditary unconjugated hyperbilirubinaemia type 2; UGT deficiency type 2;

ICD-11 acronym : CNS2;

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Type 2 Crigler-Najjar syndrome is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms). First clinical manifestations usually appear soon after birth. CNS2 patients are less severely jaundiced than CNS1 patients, have pigmented bile that contains bilirubin glucuronides, and generally do not present neurologic or intellectual impairment. Bilirubin encephalopathy may develop in later life when patients experience a superimposed infection or stress.

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02/06/2024


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