Neuronal Ceroid Lipofuscinosis Type 3

Preferred Label : Neuronal Ceroid Lipofuscinosis Type 3;

NCIt synonyms : Batten Disease; CLN3;

NCIt definition : A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.;

Details

Origin ID

C61258;

UMLS CUI

C0751383;

Automatic exact mappings (from CISMeF team)
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Currated CISMeF NLP mapping
- Batten disease [DO Concept]
- Batten disease [Disease (Nov.)]
- Batten's disease [MedDRA LLT]
- Batten's syndrome [MedDRA LLT]
- Ceroid lipofuscinosis, neuronal, 3 [OMIM Phenotype]
- Juvenile neuronal ceroid lipofuscinosis [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Spielmeyer-Vogt disease [PASCAL descriptor]
- Vogt-Spielmeyer disease [MedDRA LLT]
- juvenile neuronal ceroid lipofuscinosis [SNOMED Notion]
- juvenile neuronal ceroid lipofuscinosis [MeSH concept]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
See also inter- (CISMeF)
- CLN3 lysosomal/endosomal transmembrane protein, battenin [ORDO Gene]
- Cln3 lysosomal/endosomal transmembrane protein, battenin [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Batten disease [DO Concept]
- Batten disease [Disease (Nov.)]
- Batten's disease [MedDRA LLT]
- Batten's syndrome [MedDRA LLT]
- Ceroid lipofuscinosis, neuronal, 3 [OMIM Phenotype]
- Juvenile neuronal ceroid lipofuscinosis [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Spielmeyer-Vogt disease [PASCAL descriptor]
- Vogt-Spielmeyer disease [MedDRA LLT]
- juvenile neuronal ceroid lipofuscinosis [MeSH concept]
- juvenile neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
Validated automatic mappings to NTBT
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category (who)]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CLN3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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