Autosomal dominant hereditary disorder
Congenital disease
Congenital myopathy
Hereditary disorder of musculoskeletal system
Hereditary myopathy
Myofibrillar myopathy
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Spheroid body myopathy (disorder)
Spheroid body myopathy
A rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.
'spheroid body'-myopathie
Id765092004
StatusPrimitive
Finding siteSkeletal muscle structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.8
RuleTRUE
AdviceALWAYS G71.8
CorrelationSNOMED CT source code to target map code correlation not specified