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distale myopathie door mutatie in 'valosin-containing protein' beginnend op volwassen leeftijd (aandoening)
distale myopathie door mutatie in 'valosin-containing protein' beginnend op volwassen leeftijd
distale myopathie door VCP-mutatie op volwassen leeftijd
Adult-onset distal myopathy due to valosin containing protein mutation
Adult-onset distal myopathy due to VCP mutation
Adult-onset distal myopathy due to VCP (valosin containing protein) mutation
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.
Id770792007
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencevolwassenheid
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.0
TermSpierdystrofie
SNOMED CT to Orphanet simple map329478
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified