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chronische progressieve externe oftalmoplegie met mitochondriale myopathie beginnend op volwassen leeftijd (aandoening)
chronische progressieve externe oftalmoplegie met mitochondriale myopathie beginnend op volwassen leeftijd
CPEO met mitochondriƫle myopathie beginnend op volwassen leeftijd
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset CPEO (chronic progressive external ophthalmoplegia) with mitochondrial myopathy
A rare mitochondrial disease with characteristics of adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
Id725464001
StatusPrimitive
Clinical courseprogressief
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.3
TermMitochondriƫn-myopathie, niet elders geclassificeerd
TargetH49.4
TermProgressieve externe oftalmoplegie
SNOMED CT to Orphanet simple map329336
SNOMED CT to ICD-10 extended map
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
TargetH49.4
RuleTRUE
AdviceALWAYS H49.4
CorrelationSNOMED CT source code to target map code correlation not specified