" /> Juvenile neuronal ceroid lipofuscinosis - CISMeF





Preferred Label : Juvenile neuronal ceroid lipofuscinosis;

ICD-11 definition : Juvenile neuronal ceroid lipofuscinoses are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.;

ICD-11 synonym : Lysosomal transmembrane CLN3 protein deficiency; Batten-Spielmeyer-Vogt disease; Juvenile NCL; Juvenile NCL - [neuronal ceroid lipofuscinosis]; Spielmeyer-Vogt disease; Batten disease; neuronal ceroid lipofuscinosis;

ICD-11 inclusion : Spielmeyer-Vogt type neuronal ceroid lipofuscinosis; Batten-Mayou disease; amaurotic idiocy early juvenile type; Batten-Mayou syndrome; amaurotic idiocy juvenile type;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :

Juvenile neuronal ceroid lipofuscinoses are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.

Nous contacter.
02/06/2024


[Home] [Top]

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