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distale myopathie beginnend in musculus tibialis anterior (aandoening)
distale myopathie beginnend in musculus tibialis anterior
Distal myopathy with anterior tibial onset
Distal anterior compartment myopathy
A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent.
Id782675008
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified