Cardiovascular system hereditary disorder	Central nervous system complication	Coenzyme Q10 deficiency	Hereditary disorder of musculoskeletal system	Hereditary disorder of nervous system	Hereditary myopathy	Hypertrophic mitochondrial cardiomyopathy	Metabolic neuropathy	Mitochondrial encephalomyopathy	Neonatal cardiovascular disorder	Neonatal metabolic disorder
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Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder)
	Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome
	COQ4-related neonatal encephalomyopathy Coenzyme Q4-related neonatal encephalomyopathy
	A rare mitochondrial disease with characteristics of neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.
	neonataal syndroom van encefalomyopathie, cardiomyopathie en 'respiratory distress'
	COQ4-gerelateerde neonatale encefalomyopathie co-enzym Q4-gerelateerde neonatale encefalomyopathie

Id	1186718008
Status	Primitive

Due to

Mitochondrial cytopathy

Finding site

Nerve structure

Finding site	Brain structure
Occurrence	Neonatal

Finding site	Skeletal muscle structure
Occurrence	Neonatal

Associated morphology	Hypertrophy
Finding site	Myocardium structure

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