Neuronal ceroid lipofuscinosis

ICD-11 code : 5C56.1;

Preferred Label : Neuronal ceroid lipofuscinosis;

ICD-11 definition : Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.;

ICD-11 synonym : ceroid-lipofuscinosis; NCL - [neuronal ceroid lipofuscinosis]; pigmentary retinal lipoid neuronal heredodegeneration.; cerebromacular degeneration; cerebromacular dystrophy;

ICD-11 acronym : NCL;

ICD-11 inclusion : late familial amaurotic idiocy; amaurotic familial idiocy; amaurotic idiocy; cerebrum lipidosis; cerebral lipidoses; amaurotic idiot; cerebroretinal lipidosis; cerebral lipidosis; neuronal lipofuscinosis; cerebral lipidosis myoclonic variant;

Details

Origin ID

1568332253;

UMLS CUI

C0027877;

Automatic exact mappings (from CISMeF team)
- Nucleolin [OMIM gene]
- cathepsin D [HGNC gene]
- palmitoyl-protein thioesterase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Neuronal Ceroid Lipofuscinosis [NCIt concept]
- Neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis [MedDRA Preferred Term]
- Neuronal ceroid lipofuscinosis [PASCAL descriptor]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category (who)]
- Neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis NOS [MedDRA LLT]
- neuronal Ceroid-Lipofuscinoses [MeSH concept]
- neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid lipofuscinosis [DO Concept]
- neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid lipofuscinosis [Error of metabolism category]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
False automatic mappings
- New Caledonia [NCIt concept]
- Nucleolin [NCIt concept]
ICD-10 Mapping
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category]
See also inter- (CISMeF)
- NCL Gene [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ceroid storage disease [OMIM Phenotype]
- Neuronal Ceroid Lipofuscinosis [NCIt concept]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category]
- Neuronal ceroid lipofuscinosis [MedDRA Preferred Term]
- Neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis [PASCAL descriptor]
- Neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal ceroid lipofuscinosis NOS [MedDRA LLT]
- neuronal Ceroid-Lipofuscinoses [MeSH concept]
- neuronal ceroid lipofuscinosis [DO Concept]
- neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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