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zuivere mitochondriale myopathie (aandoening)
zuivere mitochondriale myopathie
pure mitochondriale myopathie
Pure mitochondrial myopathy
A rare mitochondrial disease with characteristics of exclusive skeletal muscle involvement without clinical evidence of other organ involvement. Disease manifestations are progressive limb weakness, proximal limb muscle atrophy and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia and diminished deep tendon reflexes.
Id732245008
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.3
TermMitochondriƫn-myopathie, niet elders geclassificeerd
SNOMED CT to Orphanet simple map254854
SNOMED CT to ICD-10 extended map
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3
CorrelationSNOMED CT source code to target map code correlation not specified