loading...| Preferred Name |
克里格勒-纳贾综合征 / Crigler-Najjar syndrome |
| Definitions |
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. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/5C58.00 |
| 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. |
| hasDbXref | |
| label |
克里格勒-纳贾综合征 / Crigler-Najjar syndrome |
| mappingRelation | |
| notation |
5C58.00 |
| prefixIRI |
ICD11CN:C58.00 |
| prefLabel |
克里格勒-纳贾综合征 / Crigler-Najjar syndrome |
| subClassOf |