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X-linked myopathy with excessive autophagy (disorder)
X-linked myopathy with excessive autophagy
Vacuolar myopathy
This myopathy is a childhood-onset X-linked myopathy with characteristics of slow progression of muscle weakness and unique histopathological findings. It has been described in about fifteen families The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. The Xq28 locus has been associated with the disease.
X-gebonden myopathie met overmatige autofagie
XMEA
Id719815005
StatusPrimitive
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