" /> Crigler-Najjar syndrome - CISMeF





ICD-11 code : 5C58.00;

Preferred Label : Crigler-Najjar syndrome;

ICD-11 definition : Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase activity. Two types have been described, CNS types 1 and 2, depending on whether the enzymatic deficit is complete or partial: clinical manifestations vary accordingly. Patients present with isolated jaundice that appears early in life. Biological analyses detect severe unconjugated hyperbilirubinemia with normal liver function tests. Abdominal imaging studies (plain X-rays, CT scans or ultrasonograms) and liver histology findings are normal. Diagnosis is generally confirmed by genomic DNA analysis.;

ICD-11 synonym : Bilirubin uridinediphosphate glucuronosyltransferase deficiency; deficiency of glucuronosyltransferase; Bilirubin-UGT deficiency; Bilirubin UDP glucuronyl transferase deficiency; bilirubin glucuronosyltransferase deficiency; Hereditary unconjugated hyperbilirubinaemia; crigler-najjar disease or syndrome; CNS - [Crigler-Najjar syndrome]; glucuronyl transferase deficiency; glucuronyltransferase deficiency; udp glucuronyl transferase deficiency; UGT deficiency;

ICD-11 acronym : CNS;

ICD-11 inclusion : congenital familial nonhemolytic jaundice;

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Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase activity. Two types have been described, CNS types 1 and 2, depending on whether the enzymatic deficit is complete or partial: clinical manifestations vary accordingly. Patients present with isolated jaundice that appears early in life. Biological analyses detect severe unconjugated hyperbilirubinemia with normal liver function tests. Abdominal imaging studies (plain X-rays, CT scans or ultrasonograms) and liver histology findings are normal. Diagnosis is generally confirmed by genomic DNA analysis.

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08/06/2024


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