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ernstige X-gebonden mitochondriale encefalomyopathie (aandoening)
ernstige X-gebonden mitochondriale encefalomyopathie
mitochondriale encefalomyopathie door gecombineerde oxidatieve fosforylatiedeficiëntie type 6
mitochondriale encefalomyopathie door COXPD6-deficiëntie
Severe X-linked mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
Mitochondrial encephalomyopathy due to COXPD6 deficiency
An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.
Id722212004
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