Autosomal recessive hereditary disorder	Cardiovascular system hereditary disorder	Hereditary metabolic disease	Hypertrophic mitochondrial cardiomyopathy	Mitochondrial cytopathy
\|	\|	\|	\|	\|

Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder)
	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 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.
	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

Id	771513008
Status	Primitive

Due to

Mitochondrial cytopathy

Associated morphology	Hypertrophy
Finding site	Myocardium structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E88.8
Rule	TRUE
Advice	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified