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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
infantiele hypertrofische cardiomyopathie door mitochondriaal-ribosomaal-proteïne-L44-deficiëntie
hypertrofische cardiomyopathie door MRPL44-deficiëntie beginnend op zuigelingenleeftijd
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Combined oxidative phosphorylation defect type 16
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency and characteristics of 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. Caused by homozygous mutation in the MRPL44 gene on chromosome 2.
Id771513008
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
referentieset met complexe 'mapping' naar ICD-10
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