Autosomal recessive hereditary disorder	Cardiovascular system hereditary disorder	Disorder of brain	Hereditary disorder of musculoskeletal system	Hereditary disorder of nervous system	Mitochondrial myopathy	Myocardial disease	Neonatal cardiovascular disorder	Neonatal metabolic disorder
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Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)
	TMEM70 related mitochondrial encephalo-cardio-myopathy
	Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
	Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

Id	718212006
Status	Primitive

Occurrence

Finding site

Brain structure

Finding site

Myocardium structure

Finding site

Skeletal muscle structure

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G71.3
Term	Mitochondriën-myopathie, niet elders geclassificeerd

SNOMED CT to ICD-10 extended map

Target	G71.3
Rule	TRUE
Advice	ALWAYS G71.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified