Autosomal recessive hereditary disorder	Congenital neurological disorder	Disorder of brain	Disorder of organic acid metabolism	Inherited metabolic disorder of nervous system
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Ethylmalonic encephalopathy (disorder)
	Ethylmalonic encephalopathy
	Disease defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging abnormalities. The disease manifests at birth or in the first few months of life. Caused by mutations in the ETHE1 gene (chromosome 19q13). The disease is inherited in an autosomal recessive manner.
	ethylmalonencefalopathie
	ethylmalonacidurie

Id	723307008
Status	Primitive

Finding site	Brain structure
Occurrence	Congenital

DHD Diagnosis thesaurus reference set

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