Catalog

Cerebrotendinous xanthomatosis

No MMS code

Link to WHO Definition

Cerebrotendinous xanthomatosis – http://id.who.int/icd/entity/1556875179

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