Finnish variant of late infantile neuronal ceroid lipofuscinosis

Preferred Label : Finnish variant of late infantile neuronal ceroid lipofuscinosis;

ICD-11 definition : Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.;

ICD-11 synonym : Variant late infantile neuronal ceroid lipofuscinosis; Progressive epilepsy-intellectual deficit, Finnish type; CLN8 disease, Northern epilepsy variant; Northern epilepsy;

Détails

Origin ID

1529318668;

Automatic exact mappings (from CISMeF team)
- Ceroid lipofuscinosis, neuronal, 5 [OMIM Phenotype]
- Ceroid lipofuscinosis, neuronal, 6a [OMIM Phenotype]
- Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant [OMIM Phenotype]
- Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) [SNOMED CT concept]
- Progressive epilepsy-intellectual disability syndrome, Finnish type [ORDO Disease]
- ceroid lipofuscinosis, neuronal 5 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal 8 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 6 [MeSH Supplementary Concept]

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