autosomaal recessieve hereditaire aandoening
congenitale cardiovasculaire aandoening
deficiëntie van enzymcomplexen van mitochondriale ademhalingsketen
hereditaire aandoening van cardiovasculair systeem
hypertrofische mitochondriale cardiomyopathie
mitochondriale cytopathie
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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
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency
COXPD10 - combined oxidative phosphorylation defect type 10
Combined oxidative phosphorylation defect type 10
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
Id771478008
StatusPrimitive
Due tomitochondriale cytopathie
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
TargetI42.2
TermOverige hypertrofische cardiomyopathie
SNOMED CT to Orphanet simple map314637
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetI43.1
RuleTRUE
AdviceALWAYS I43.1 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
CorrelationSNOMED CT source code to target map code correlation not specified