" /> Cerebrotendinous xanthomatosis - CISMeF





Preferred Label : Cerebrotendinous xanthomatosis;

ICD-11 definition : Cerebrotendinous xanthomatosis is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.;

ICD-11 synonym : CTX - [Cerebrotendinous xanthomatosis]; Cholestanol storage disease; Van Bogaert-Scherer-Epstein disease; Sterol 27-hydroxylase deficiency;

ICD-11 acronym : CTX;

Détails


Vous pouvez consulter :

Cerebrotendinous xanthomatosis is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

Nous contacter.
26/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.