Preferred Label : Late infantile neuronal ceroid lipofuscinosis;
ICD-11 definition : Late infantile neuronal ceroid lipofuscinoses are a genetically heterogeneous group
of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy
or early childhood with decline of mental and motor capacities, epilepsy, and vision
loss through retinal degeneration.;
ICD-11 synonym : LINCL - [late infantile neuronal ceroid lipofuscinosis]; Dollinger-Bielschowsky syndrome; Jansky-Bielschowsky disease; Dollinger-Bielschowsky type neuronal ceroid lipofuscinosis; Lysosomal pepstatin-insensitive peptidase deficiency;
ICD-11 acronym : LINCL;
CISMeF acronym : LINCL;
ICD-11 inclusion : Bielschowsky Jansky amaurotic idiot; Bielschowsky Jansky type neuronal ceroid lipofuscinosis; Bielschowsky disease; amaurotic idiocy late infantile type; infantile cerebrum lipidosis; Bielschowsky Jansky amaurotic idiocy;
Origin ID : 1923920542;
Currated CISMeF NLP mapping
- Validated automatic mappings to NTBT
Late infantile neuronal ceroid lipofuscinoses are a genetically heterogeneous group
of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy
or early childhood with decline of mental and motor capacities, epilepsy, and vision
loss through retinal degeneration.
