ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C58 — Inborn errors of porphyrin or heme metabolism
5C58.0 — Disorders of bilirubin metabolism or excretion
5C58.00 — Crigler-Najjar syndrome
ICD-11 5C58.00 — Crigler-Najjar syndrome
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.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: