|||
gecombineerd defect in oxidatieve fosforylering type 13 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 13
gecombineerd defect in OXPHOS type 13
COXPD13
Combined oxidative phosphorylation defect type 13
COXPD13 - combined oxidative phosphorylation defect type 13
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesia) and reduced tendon reflexes. The disease course is severe but nonprogressive.
Id763110007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3
CorrelationSNOMED CT source code to target map code correlation not specified