Preferred Label : Joubert syndrome with oculorenal defect;
ICD-11 definition : Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome related
disorders (JSRD) characterized by the neurological features of JS associated with
both renal (nephronophthisis, usually juvenile) and ocular disease (manifesting with
either Leber congenital amaurosis, or progressive retinal dystrophy).;
ICD-11 synonym : CORS syndrome; Cerebello-oculo-renal syndrome; Dekaban-Arima syndrome; Arima syndrome; Joubert syndrome with Senior-Loken syndrome; CORS - [Cerebello-oculo-renal syndrome] syndrome;
Origin ID : 397835469;
Automatic exact mappings (from CISMeF team)
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome related
disorders (JSRD) characterized by the neurological features of JS associated with
both renal (nephronophthisis, usually juvenile) and ocular disease (manifesting with
either Leber congenital amaurosis, or progressive retinal dystrophy).
