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DNA2-gerelateerd mitochondriaal DNA-deletiesyndroom (aandoening)
DNA2-gerelateerd mitochondriaal DNA-deletiesyndroom
DNA2-gengerelateerd mtDNA-deletiesyndroom
DNA2-related mitochondrial DNA deletion syndrome
Mitochondrial DNA deletion syndrome with limb-girdle weakness
Mitochondrial DNA deletion syndrome with progressive myopathy
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome
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.
Id783057002
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified