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mitochondriale hypertrofische cardiomyopathie met lactaatacidose door deficiëntie van 'mitochondrial tRNA translation optimization 1' (aandoening)
mitochondriale hypertrofische cardiomyopathie met lactaatacidose door MTO1-deficiëntie
mitochondriale hypertrofische cardiomyopathie met lactaatacidose door mitochondriale-tRNA-translatieoptimalisatie 1-deficiëntie
mitochondriale hypertrofische cardiomyopathie met lactaatacidose door deficiëntie van 'mitochondrial tRNA translation optimization 1'
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
COXPD10 - combined oxidative phosphorylation defect type 10
Combined oxidative phosphorylation defect type 10
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency. The disease has characteristics of lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Caused by homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13.
Id771478008
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetI42.2
RuleTRUE
AdviceALWAYS I42.2
CorrelationSNOMED CT source code to target map code correlation not specified