Progressive epilepsy-intellectual disability syndrome, Finnish type
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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
This is just here as a test because I lose it
Term information
database cross reference
- UMLS:C1864923 (E (Exact mapping: the two concepts are equivalent))
- OMIM:610003 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E75.4 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- ICD-10:E75.4 (Attributed (The ICD10 code is attributed by Orphanet))
Term relations
Subclass of:
- disease
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- part_of some Neuronal ceroid lipofuscinosis
- part_of some Rare genetic syndromic intellectual disability
- has_inheritance some autosomal recessive
- part_of some Rare syndromic intellectual disability
- has_age_of_onset some childhood
- part_of some Progressive myoclonic epilepsy
- part_of some Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- part_of some Monogenic disease with epilepsy