Autosomal recessive hereditary disorder	Congenital myopathy	Depletion of mitochondrial DNA	Hereditary disorder of musculoskeletal system	Hereditary myopathy	Mitochondrial myopathy
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Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder)
	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.
	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

Id	733599009
Status	Primitive

Finding site	Skeletal muscle structure
Occurrence	Congenital

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G71.3
Rule	TRUE
Advice	ALWAYS G71.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified