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5C58.00 Crigler-Najjar syndrome

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterised 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.

synonyms

• Crigler-Najjar syndrome
• Bilirubin uridinediphosphate glucuronosyltransferase deficiency
• Hereditary unconjugated hyperbilirubinaemia
• Bilirubin-UGT deficiency
• UGT deficiency
• Bilirubin UDP glucuronyl transferase deficiency
• bilirubin glucuronosyltransferase deficiency
• crigler-najjar disease or syndrome
• deficiency of glucuronosyltransferase
• glucuronyl transferase deficiency
• glucuronyltransferase deficiency
• udp glucuronyl transferase deficiency
• CNS - [Crigler-Najjar syndrome]
• congenital familial nonhemolytic jaundice
• Crigler-Najjar syndrome type 1
• Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
• Hereditary unconjugated hyperbilirubinaemia type 1
• Bilirubin-UGT deficiency type 1
• UGT deficiency type 1
• Bilirubin glucuronyltransferase deficiency
• CNS1 - [Crigler-Najjar syndrome type 1]
• Crigler-Najjar syndrome type 2
• Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
• Hereditary unconjugated hyperbilirubinaemia type 2
• Bilirubin-UGT deficiency type 2
• UGT deficiency type 2
• Arias syndrome
• CNS2 - [Crigler-Najjar syndrome type 2]

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