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hereditaire distale motorische neuropathie beginnend op jongvolwassen leeftijd (aandoening)
hereditaire distale motorische neuropathie beginnend op jongvolwassen leeftijd
erfelijke distale motorische neuropathie beginnend op jongvolwassen leeftijd
Young adult-onset distal hereditary motor neuropathy
Autosomal recessive distal spinal muscular atrophy type 5
A rare autosomal recessive distal hereditary motor neuropathy with characteristics of slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. There is evidence this disease is caused by homozygous mutation in the DNAJB2 gene on chromosome 2q35.
Id771475006
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2
CorrelationSNOMED CT source code to target map code correlation not specified