autosomaal dominante centronucleaire myopathie (aandoening)
autosomaal dominante centronucleaire myopathie
Autosomal dominant centronuclear myopathy
An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermCongenitale myopathie├źn
SNOMED CT to Orphanet simple map169189
SNOMED CT to ICD-10 extended map
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified