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mitochondriale myopathie met reversibele cytochroom-c-oxidasedeficiëntie (aandoening)
mitochondriale myopathie met reversibele cytochroom-c-oxidasedeficiëntie
mitochondriale myopathie met reversibele deficiëntie van cytochroom-c-oxidase
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Reversible infantile cytochrome C oxidase deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Mitochondrial myopathy with reversible COX (cytochrome C oxidase) deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Reversible infantile respiratory chain deficiency
Benign COX (cytochrome C oxidase) deficiency
A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of potentially life-threatening severe myopathy manifesting in the neonatal to early infantile period, followed by marked spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient marked decrease in respiratory chain activity.
Id784370005
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified