Autosomal recessive hereditary disorder
Depletion of mitochondrial DNA
Disorder of pyrimidine metabolism
Hereditary disorder of musculoskeletal system
Mitochondrial myopathy
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Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but most often has characteristics of hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.
Id1231309005
StatusPrimitive
Finding siteSkeletal muscle structure
OccurrenceCongenital
ICD-10 complex map reference set
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
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TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form