|neonataal syndroom van encefalomyopathie, cardiomyopathie en 'respiratory distress' (aandoening)|
neonataal syndroom van encefalomyopathie, cardiomyopathie en 'respiratory distress'
COQ4-gerelateerde neonatale encefalomyopathie
co-enzym Q4-gerelateerde neonatale encefalomyopathie
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.
|SNOMED CT to Orphanet simple map||457185|
|SNOMED CT to ICD-10 extended map|
|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|