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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Hyperbilirubinemia, Hereditary > Crigler-Najjar Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Hyperbilirubinemia, Hereditary > Crigler-Najjar Syndrome

Terme préférentiel

Crigler-Najjar Syndrome  

Type

  • mesh:Descriptor

Définition

  • A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.

Concept générique

Synonyme(s)

  • Crigler-Najar Syndrome
  • Crigler Najjar Syndrome
  • Crigler Najjar Syndrome, Type 1
  • Crigler-Najjar Syndrome, Type I
  • Familial Nonhemolytic Unconjugated Hyperbilirubinemia
  • Hereditary Unconjugated Hyperbilirubinemia

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome de Crigler-Najjar

    français

  • Ictère congénital non hémolytique avec ictère nucléaire de Crigler-Najjar
  • Ictère familial congénital de Crigler-Najjar
  • Maladie de Crigler-Najjar
  • Maladie de Crigler-Najjar de type I
  • SCN (Syndrome de Crigler-Najjar)
  • Syndrome de Crigler-Najjar de type I

URI

http://data.loterre.fr/ark:/67375/JVR-LJT85TGS-Q

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 08/07/2013