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Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein
A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.
acuut infantiel leverfalen door synthesedefect van door mitochondriaal DNA gecodeerd eiwit
acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit
acuut infantiel leverfalen door synthesedefect van door mtDNA gecodeerd eiwit
acuut infantiel leverfalen door synthesedefect van door mitochondrieel desoxyribonucleïnezuur gecodeerd proteïne
Id720461006
StatusPrimitive
Finding siteLiver structure
OccurrenceInfancy
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetK72.0
RuleTRUE
AdviceALWAYS K72.0
CorrelationSNOMED CT source code to target map code correlation not specified