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syndroom van doofheid, encefaloneuropathie, obesitas en klepinsufficiƫntie (aandoening)
syndroom van doofheid, encefaloneuropathie, obesitas en klepinsufficiƫntie
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome
A rare mitochondrial disease with marked clinical variability typically and characteristics of encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
Id763688008
StatusPrimitive
Finding sitestructuur van oor
Occurrencecongenitaal
Interpretsgehoorfunctie
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