Neuronal Ceroid Lipofuscinosis Type 1

Preferred Label : Neuronal Ceroid Lipofuscinosis Type 1;

NCIt synonyms : Santavuori Disease; CLN1; Infantile Neuronal Ceroid Lipofuscinosis;

NCIt definition : A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.;

Details

Origin ID

C85861;

UMLS CUI

C0268281;

Automatic exact mappings (from CISMeF team)
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
- palmitoyl-protein thioesterase 1 [ORDO Gene]
Currated CISMeF NLP mapping
- CLN1 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 1 [OMIM Phenotype]
- Infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- ceroid lipofuscinosis, neuronal 1, infantile [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 1 [MeSH concept]
- ceroid lipofuscinosis, neuronal, 1 [MeSH Supplementary Concept]
- infantile neuronal ceroid lipofuscinosis [MeSH concept]
- infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid lipofuscinosis 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
- infantile neuronal ceroid lipofuscinosis [MeSH concept]
- infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
Validated automatic mappings to BTNT
- Ceroid lipofuscinosis, neuronal 1, infantile [MeSH concept]
- ceroid lipofuscinosis, neuronal 1, infantile [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Muscle-eye-brain disease [ORDO Disease]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
- infantile neuronal ceroid lipofuscinosis [MeSH concept]
- infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PPT1 Gene [NCIt concept]

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