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Progressive epilepsy-intellectual disability syndrome, Finnish type

^ http://www.orpha.net/ORDO/Orphanet_1947


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

Synonyms: NCL, Northern epilepsy variant, CLN8 disease, Northern epilepsy variant, Northern epilepsy, Neuronal ceroid lipofuscinosis, Northern epilepsy variant

Term info

database cross reference
  • ICD-10:E75.4 (NTBT (narrower term maps to a broader term))
  • OMIM:610003 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E75.4 (Attributed)
  • UMLS:C1864923 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

ICD-10:E75.4, OMIM:610003, UMLS:C1864923

notation

ORPHA:1947