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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 deoxyribonucleïnezuurdeletiesyndroom door deficiëntie van deoxyguanosinekinase beginnend op volwassen leeftijd
meervoudig mitochondriaal DNA-deletiesyndroom door DGUOK-deficiëntie 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
referentieset met complexe 'mapping' naar ICD-10
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