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hereditaire motorische en sensorische neuropathie type 2R (aandoening)
hereditaire motorische en sensorische neuropathie type 2R
ziekte van Charcot-Marie-Tooth type 2R
Charcot-Marie-Tooth disease type 2R
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.
Id774147002
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified