autosomaal recessieve hereditaire aandoening
hereditaire aandoening van cardiovasculair systeem
hypertrofische mitochondriale cardiomyopathie
mitochondriale cytopathie
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hypertrofe cardiomyopathie door deficiëntie van mitochondriaal-ribosomaal-proteïne-L44 beginnend op zuigelingenleeftijd (aandoening)
hypertrofe cardiomyopathie door deficiëntie van mitochondriaal-ribosomaal-proteïne-L44 beginnend op zuigelingenleeftijd
hypertrofische cardiomyopathie door MRPL44-deficiëntie beginnend op zuigelingenleeftijd
infantiele hypertrofische cardiomyopathie door mitochondriaal-ribosomaal-proteïne-L44-deficiëntie
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency
Combined oxidative phosphorylation defect type 16
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-ophthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
Id771513008
StatusPrimitive
Due tomitochondriale cytopathie
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
SNOMED CT to Orphanet simple map352563
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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