Autosomal recessive hereditary disorder
Disorder of brain
Disorder of organic acid metabolism
Inherited metabolic disorder of nervous system
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Ethylmalonic encephalopathy (disorder)
Ethylmalonic encephalopathy
Ethylmalonic acid encephalopathy (EE) is 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 (MRI) abnormalities.
Id723307008
StatusPrimitive
Finding siteBrain structure
OccurrenceCongenital
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified