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Neuronal ceroid lipofuscinosis type 7 (disorder)
Neuronal ceroid lipofuscinosis type 7
NCL7 - neuronal ceroid lipofuscinosis type 7
A rare neuronal ceroid lipofuscinosis characterized by epilepsy with myoclonic, atonic, and bilateral tonic-clonic seizures, gait disturbance, and language difficulty/delay. Progressive motor and cognitive decline, personality disorders, myoclonus and visual loss are common clinical features become evident later in the disease progress. Age of onset is typically late-infantile, however few juvenile-onset patients are reported.
Id1373774001
StatusPrimitive
Clinical courseProgressive
OccurrenceCongenital
Associated morphologyDegenerative abnormality
Finding siteBrain structure
SNOMED CT to ICD-10 extended map
TargetE75.4
RuleTRUE
AdviceALWAYS E75.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified