Cardiovascular system hereditary disorder	Central nervous system complication	Coenzyme Q10 deficiency	Disorder of brain	Hereditary nephropathy	Hypertrophic mitochondrial cardiomyopathy	Inherited metabolic disorder of nervous system	Metabolic renal disease	Peripheral neuropathy due to metabolic disorder	Renal tubular disorder	Urinary complication
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Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder)
	Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Id	763280005
Status	Primitive

Associated morphology	Hypertrophy
Finding site	Myocardium structure

Finding site

Peripheral nerve structure

Finding site

Brain structure

Due to

Mitochondrial cytopathy

Finding site

Renal tubule structure

Occurrence

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E88.8
Term	Overige gespecificeerde stofwisselingsstoornissen

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