Autosomal dominant hereditary disorder
Chronic disease of musculoskeletal system
Chronic metabolic disorder
Hereditary disorder of musculoskeletal system
Mitochondrial myopathy
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Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder)
Autosomal dominant mitochondrial myopathy with exercise intolerance
A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.
Id1222644009
StatusPrimitive
Clinical courseProgressive
Finding siteSkeletal muscle structure
ICD-10 complex map reference set
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified