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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermZiekte van motorische neuronen
SNOMED CT to Orphanet simple map139518
SNOMED CT to ICD-10 extended map
AdviceALWAYS G12.2
CorrelationSNOMED CT source code to target map code correlation not specified