Neuronal Ceroid Lipofuscinosis Type 2

Preferred Label : Neuronal Ceroid Lipofuscinosis Type 2;

NCIt synonyms : CLN2; Late Infantile Neuronal Ceroid Lipofuscinosis;

NCIt definition : A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.;

Details

Origin ID

C85864;

UMLS CUI

C0022340;

Automatic exact mappings (from CISMeF team)
- Tripeptidyl peptidase I [OMIM gene]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Currated CISMeF NLP mapping
- CLN2 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 2 [OMIM Phenotype]
- Late infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Late-Infantile neuronal ceroid lipofuscinosis [MeSH concept]
- Late-infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- ceroid lipofuscinosis, neuronal, 2 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 2 [MeSH concept]
- late-infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid lipofuscinosis 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jansky Bielshowsky syndrome [Disease (Nov.)]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Late-Infantile neuronal ceroid lipofuscinosis [MeSH concept]
- Late-infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- late-infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
Validated automatic mappings to BTNT
- Jansky Bielshowsky syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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