ceroid lipofuscinosis, neuronal 5

Preferred Label : ceroid lipofuscinosis, neuronal 5;

MeSH synonym : VLINCL; neuronal ceroid lipofuscinosis, 5; neuronal ceroid lipofuscinosis, finnish variant, late infantile; ceroid lipofuscinosis, neuronal, 5, variable age at onset; finnish VLINCL;

Details

Origin ID

C575534;

UMLS CUI

C1850442;

Automatic exact mappings (from CISMeF team)
- Ceroid lipofuscinosis, neuronal, 6a [OMIM Phenotype]
- Finnish variant of late infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- CLN5 intracellular trafficking protein [ORDO Gene]
- Ceroid lipofuscinosis, neuronal, 5 [OMIM Phenotype]
- Neuronal Ceroid Lipofuscinosis Type 5 [NCIt concept]
- neuronal ceroid lipofuscinosis 5 [DO Concept]
MeSH term(s) associated for indexing
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Record concept(s)
- Ceroid lipofuscinosis, neuronal 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN5 disease [ORDO Disease]
- CLN5 intracellular trafficking protein [ORDO Gene]
- Ceroid lipofuscinosis, neuronal, 5 [OMIM Phenotype]
- Neuronal Ceroid Lipofuscinosis Type 5 [NCIt concept]
- neuronal ceroid lipofuscinosis 5 [DO Concept]

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