Neuronal Ceroid Lipofuscinosis

Preferred Label : Neuronal Ceroid Lipofuscinosis;

NCIt definition : A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.;

Codes from synonyms : E75.4;

Details

Origin ID

C61257;

UMLS CUI

C0027877;

Automatic exact mappings (from CISMeF team)
- Adult neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Juvenile neuronal ceroid lipofuscinosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Ceroid storage disease [OMIM Phenotype]
- Neuronal ceroid lipofuscinosis [PASCAL descriptor]
- Neuronal ceroid lipofuscinosis [MedDRA Preferred Term]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category]
- Neuronal ceroid lipofuscinosis [ICD-11 Subcategory]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category (who)]
- Neuronal ceroid lipofuscinosis [ORDO Disease]
- 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 [Error of metabolism category]
- neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
DO Cross reference
- neuronal ceroid lipofuscinosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ceroid storage disease [OMIM Phenotype]
- Neuronal ceroid lipofuscinosis [ORDO Disease]
- Neuronal ceroid lipofuscinosis [MedDRA Preferred Term]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category]
- Neuronal ceroid lipofuscinosis [PASCAL descriptor]
- Neuronal ceroid lipofuscinosis [ICD-11 Subcategory]
- 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 [DO Concept]
- neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
concept_is_in_subset
- mCode Elixhauser Other Neurological Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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