Hypertrophic mitochondrial cardiomyopathy
Mitochondrial myopathy
Renal tubular acidosis
Urinary complication
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Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder)
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation
A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.
hypertrofische cardiomyopathie en renale tubulopathie door mitochondriale desoxyribonucleïnezuur-mutatie
hypertrofische cardiomyopathie en renale tubulopathie door mtDNA-mutatie
hypertrofische cardiomyopathie en renale tubulopathie door mitochondriale DNA-mutatie
Id771509001
StatusPrimitive
Associated morphologyHypertrophy
Finding siteMyocardium structure
Due toMitochondrial cytopathy
Finding siteSkeletal muscle structure
Finding siteKidney structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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