autosomaal recessieve hereditaire aandoening	hereditaire aandoening van cardiovasculair systeem	hypertrofische mitochondriale cardiomyopathie	mitochondriale cytopathie
\|	\|	\|	\|

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 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.

Id	771513008
Status	Primitive

Due to

mitochondriale cytopathie

Associated morphology	hypertrofie
Finding site	structuur van myocardium

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E88.8
Term	Overige gespecificeerde stofwisselingsstoornissen

SNOMED CT to Orphanet simple map

352563

SNOMED CT to ICD-10 extended map

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