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hepatocerebrorenale vorm van syndroom van mitochondriale deoxyribonucleïnezuurdepletie (aandoening)
hepatocerebrorenale vorm van mitochondriaal DNA-depletiesyndroom
hepatocerebrorenale vorm van syndroom van mitochondriale deoxyribonucleïnezuurdepletie
hepatocerebrorenale vorm van syndroom van mitochondriale desoxyribonucleïnezuurdepletie
Mitochondrial DNA depletion syndrome hepatocerebrorenal form
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form
A rare genetic mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.
Id782771007
StatusPrimitive
Finding sitestructuur van cerebrum
Occurrencecongenitaal
Finding sitestructuur van lever
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
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