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progressieve polyneuropathie met bilaterale striatale necrose (aandoening)
progressieve polyneuropathie met bilaterale striatale necrose
Progressive polyneuropathy with bilateral striatal necrosis
A rare genetic disorder of thiamine metabolism and transport with characteristics of the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. Caused by homozygous mutation in the SLC25A19 gene on chromosome 17q25.
Id771305006
StatusPrimitive
Associated morphologynecrose
Finding sitestructuur van corpus striatum
Clinical courseprogressief
DHD Diagnosethesaurus-referentieset
referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus
TargetG60.8
TermOverige gespecificeerde hereditaire en idiopathische neuropathie├źn
TargetG23.8
TermOverige gespecificeerde degeneratieve ziekten van basale ganglia
referentieset met complexe 'mapping' naar ICD-10
TargetG60.8
RuleTRUE
AdviceALWAYS G60.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG23.8
RuleTRUE
AdviceALWAYS G23.8
CorrelationSNOMED CT source code to target map code correlation not specified