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autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type C (aandoening)
autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type C
autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type C
RI-CMT C
RI-HMSN C
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
RI-CMT type C - autosomal recessive intermediate Charcot-Marie-Tooth disease type C
A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. Caused by homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.
Id773414009
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified