Autosomal dominant hereditary disorder	Congenital myopathy	Disorder of mitochondrial respiratory chain complexes	Hereditary disorder of musculoskeletal system	Hereditary myopathy	Mitochondrial myopathy
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DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder)
	DNA2-related mitochondrial DNA deletion syndrome
	Mitochondrial DNA deletion syndrome with progressive myopathy DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Mitochondrial DNA deletion syndrome with limb-girdle weakness
	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Caused by heterozygous mutation in the DNA2 gene on chromosome 10q.
	DNA2-gerelateerd mitochondriaal DNA-deletiesyndroom
	DNA2-gengerelateerd mtDNA-deletiesyndroom

Id	783057002
Status	Primitive

Finding site	Skeletal muscle structure
Occurrence	Congenital

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E88.8
Rule	TRUE
Advice	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified