723307008: Ethylmalonic encephalopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ethylmalonic encephalopathy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Ethylmalonic encephalopathy (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Ethylmalonic encephalopathy (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\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

5402997010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402998017 Ethylmalonic acid encephalopathy (EE) is 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 (MRI) abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ethylmalonic encephalopathy (disorder)	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Ethylmalonic encephalopathy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ethylmalonic encephalopathy (disorder)	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Ethylmalonic encephalopathy (disorder)	Is a	Disorder of organic acid metabolism	true	Inferred relationship	Some
Ethylmalonic encephalopathy (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Ethylmalonic encephalopathy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ethylmalonic encephalopathy (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Ethylmalonic encephalopathy (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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
5402997010	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402998017	Ethylmalonic acid encephalopathy (EE) is 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 (MRI) abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core