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Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
A rare hereditary motor and sensory neuropathy with characteristics of childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.
autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type D
autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type D
RI-CMT D
RI-HMSN D
Id1187567002
StatusPrimitive
ICD-10 complex map reference set
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified