Progressive epilepsy-intellectual disability syndrome, Finnish type
Go to external page 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:
Northern epilepsy
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
CLN8 disease, Northern epilepsy variant
NCL, 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). - Attributed (The ICD code is attributed by Orphanet).)
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
hasDbXref
- OMIM:610003
- ICD-10:E75.4
- UMLS:C1864923
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409946
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409981
notation
- ORPHA:1947
part of
- http://www.orpha.net/ORDO/Orphanet_611327
- http://www.orpha.net/ORDO/Orphanet_102283
- http://www.orpha.net/ORDO/Orphanet_166472
- http://www.orpha.net/ORDO/Orphanet_98261
- http://www.orpha.net/ORDO/Orphanet_216
present in
- http://www.orpha.net/ORDO/Orphanet_409991
Term relations
Subclass of: