" /> Joubert syndrome with hepatic defect - CISMeF





Preferred Label : Joubert syndrome with hepatic defect;

ICD-11 definition : Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome related disorders (JSRD) characterized by the neurological features of oubert syndrome associated with congenital hepatic fibrosis (CHF).;

ICD-11 synonym : Joubert syndrome with congenital hepatic fibrosis; COACH - [Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis] syndrome; COACH syndrome; Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome related disorders (JSRD) characterized by the neurological features of oubert syndrome associated with congenital hepatic fibrosis (CHF).

Nous contacter.
31/10/2025


[Home] [Top]

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