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'ATPase cation transporting 13A2'-gerelateerde juveniele neuronale ceroïdlipofuscinose (aandoening)
'ATPase cation transporting 13A2'-gerelateerde juveniele neuronale ceroïdlipofuscinose
ATP13A2-gerelateerde ziekte van Batten-Spielmeyer-Vogt
ATP13A2-gerelateerde juveniele neuronale ceroïdlipofuscinose
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
CLN12 disease
Juvenile parkinsonism, neuronal ceroid lipofuscinosis
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem.
Id789657008
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
Occurrencekinderleeftijd
Clinical courseprogressief
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
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