723307008: Ethylmalonic encephalopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Ethylmalonic encephalopathy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Ethylmalonic encephalopathy
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Ethylmalonic encephalopathy
• \Disorder of head\Encephalopathy\Ethylmalonic encephalopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ethylmalonic encephalopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Ethylmalonic encephalopathy
• \Disease\Disorder of head\Encephalopathy\Ethylmalonic encephalopathy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy
• \Disease\Metabolic disease\Organic acid metabolism disorder\Ethylmalonic encephalopathy
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3423999011	Ethylmalonic encephalopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424000013	Ethylmalonic encephalopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3424001012	Disease defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea 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.	en	Definition	Active	Case sensitive	SNOMED CT core
3424002017	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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