Autosomal dominant distal hereditary motor neuropathy
Autosomal dominant hereditary spinal muscular atrophy
Chronic nervous system disorder
Distal spinal muscular atrophy
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Distal hereditary motor neuropathy type 1 (disorder)
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.
hereditaire distale motorische neuropathie type 1
autosomaal dominante juveniele distale spinale spieratrofie type 1
Id770630005
StatusPrimitive
Clinical courseProgressive
Finding sitePeripheral nervous system structure
Finding siteNerve structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2
CorrelationSNOMED CT source code to target map code correlation not specified