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acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit (aandoening)
acuut infantiel leverfalen door synthesedefect van door mitochondriaal DNA gecodeerd eiwit
acuut infantiel leverfalen door synthesedefect van door mtDNA gecodeerd eiwit
acuut infantiel leverfalen door synthesedefect van door mitochondrieel desoxyribonucleïnezuur gecodeerd proteïne
acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit
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.
Id720461006
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetK72.0
TermAcute en subacute leverinsufficiëntie
SNOMED CT to Orphanet simple map217371
SNOMED CT to ICD-10 extended map
TargetK72.0
RuleTRUE
AdviceALWAYS K72.0
CorrelationSNOMED CT source code to target map code correlation not specified