X-gebonden myopathie met overmatige autofagie (aandoening)
X-gebonden myopathie met overmatige autofagie
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.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde primaire spieraandoeningen
SNOMED CT to Orphanet simple map25980
SNOMED CT to ICD-10 extended map
AdviceALWAYS G71.8
CorrelationSNOMED CT source code to target map code correlation not specified