autosomaal recessieve hereditaire aandoening
congenitale myopathie
depletie van mitochondriaal DNA
hereditaire aandoening van bewegingsapparaat
hereditaire myopathie
mitochondriale myopathie
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meervoudig mitochondriaal deoxyribonucleïnezuurdeletiesyndroom door deoxyguanosinekinasedeficiëntie beginnend op volwassen leeftijd (aandoening)
meervoudig mitochondriaal deoxyribonucleïnezuurdeletiesyndroom door deoxyguanosinekinasedeficiëntie beginnend op volwassen leeftijd
meervoudig mitochondriaal DNA-deletiesyndroom door DGUOK-deficiëntie beginnend op volwassen leeftijd
meervoudig mitochondriaal deoxyribonucleïnezuurdeletiesyndroom door deficiëntie van deoxyguanosinekinase beginnend op volwassen leeftijd
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mitochondrial DNA (deoxyribonucleic acid) deletion syndrome due to DGUOK (deoxyguanosine kinase) deficiency
An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle. The disease has a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
Id733599009
StatusPrimitive
Finding sitestructuur van skeletspier
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.3
TermMitochondriën-myopathie, niet elders geclassificeerd
SNOMED CT to Orphanet simple map329314
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