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autosomaal dominante motorische en sensorische neuropathie type 2Y (aandoening)
autosomaal dominante motorische en sensorische neuropathie type 2Y
autosomaal dominante HMSN 2Y
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door mutatie van 'valosin containing protein'
autosomaal dominante CMT 2 door VCP-mutatie
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP (valosin containing protein) mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
A rare axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment and distal sensory impairment. Dysarthria, dysphagia and mild cognitive and behavioral abnormalities have also been reported.
Id1187565005
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
SNOMED CT to Orphanet simple map435387
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified