hereditaire distale motorische neuropathie type 1 (aandoening)
hereditaire distale motorische neuropathie type 1
autosomaal dominante juveniele distale spinale spieratrofie type 1
Distal hereditary motor neuropathy type 1
Autosomal dominant distal juvenile spinal muscular atrophy type 1
A rare neuromuscular disease with characteristics of slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS G12.2
CorrelationSNOMED CT source code to target map code correlation not specified