" /> 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;

Details


You can consult :

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.
01/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.