723307008: encéphalopathie éthylmalonique (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
• \affection de la tête\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ethylmalonic encephalopathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
• \Disease\trouble métabolique\Disorder of organic acid metabolism\Ethylmalonic encephalopathy (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424000013	Ethylmalonic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759011000241119	encéphalopathie éthylmalonique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
958741000172112	encéphalopathie éthylmalonique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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