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Neuronal ceroid lipofuscinosis type 13 (disorder)
Neuronal ceroid lipofuscinosis type 13
Kufs disease type B
NCL13 - neuronal ceroid lipofuscinosis type 13
CLN13 disease
A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (11-65 years with the mean of 34 years) epilepsy, cognitive impairment, dementia with behavioral, neuropsychiatric, and movement disturbances. Facial dyskinesia and myoclonus epilepsy are commonly observed. Unspecified motor speech problems and akinetic mutism are also reported in some patients.
Id1373777008
StatusPrimitive
Clinical courseProgressive
OccurrenceCongenital
Associated morphologyDegenerative abnormality
Finding siteBrain structure
OccurrenceAdulthood
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