ceroid lipofuscinosis, neuronal 8

Preferred Label : ceroid lipofuscinosis, neuronal 8;

CISMeF synonym : epilepsy, progressive, with mental retardation;

MeSH synonym : ceroid lipofuscinosis, neuronal, 8;

Related MeSH term : Epilepsy progressive with mental retardation; Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant; Northern epilepsy; Northern epilepsy syndrome;

Details

Origin ID

C537952;

UMLS CUI

C1838570;

Automatic exact mappings (from CISMeF team)
- CLN8 transmembrane ER and ERGIC protein [ORDO Gene]
- Finnish variant of late infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
CISMeF manual mappings
- Progressive epilepsy-intellectual disability syndrome, Finnish type [ORDO Disease]
Currated CISMeF NLP mapping
- Ceroid lipofuscinosis, neuronal, 8 [OMIM Phenotype]
- Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant [OMIM Phenotype]
- Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) [SNOMED CT concept]
- neuronal ceroid lipofuscinosis 8 [DO Concept]
MeSH term(s) associated for indexing
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Record concept(s)
- Ceroid lipofuscinosis, neuronal 8 [MeSH concept]
- Epilepsy, Progressive, With Mental Retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN8 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 8 [OMIM Phenotype]
Validated automatic mappings to BTNT
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant [DO Concept]

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