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)))
definition citation
orphanet
hasDbXref
ICD-10:E75.4, OMIM:610003, UMLS:C1864923
notation
ORPHA:1947
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- part_of some Neuronal ceroid lipofuscinosis
- has_inheritance some autosomal recessive
- has_age_of_onset some childhood
- part_of some Progressive myoclonic epilepsy
- part_of some Monogenic disease with epilepsy