Autosomal recessive hereditary disorder
Depletion of mitochondrial DNA
Digestive system hereditary disorder
Disorder of digestive system specific to fetus OR newborn
Disorder of purine metabolism
Inherited metabolic disorder of nervous system
Metabolic and genetic disorder affecting the liver
Metabolic encephalopathy
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Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency
A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.
Id783734000
StatusPrimitive
Finding siteLiver structure
Finding siteCerebrum
OccurrenceCongenital
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.3
TermMitochondriën-myopathie, niet elders geclassificeerd
TargetE74.4
TermStoornissen van pyruvaatmetabolisme en stoornissen van gluconeogenese
SNOMED CT to ICD-10 extended map
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
TargetE79.8
RuleTRUE
AdviceALWAYS E79.8
CorrelationSNOMED CT source code to target map code correlation not specified