726702005: Epileptic encephalopathy with global cerebral demyelination (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (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
3451871013	Epileptic encephalopathy with global cerebral demyelination (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451872018	Epileptic encephalopathy with global cerebral demyelination	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451873011	Mitochondrial aspartate-glutamate carrier 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403577016	Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403578014	Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterised by severe muscular hypotonia, seizures (with or without episodic apnoea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451871013	Epileptic encephalopathy with global cerebral demyelination (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451872018	Epileptic encephalopathy with global cerebral demyelination	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451873011	Mitochondrial aspartate-glutamate carrier 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451874017	A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403577016	Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403578014	Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterised by severe muscular hypotonia, seizures (with or without episodic apnoea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3438321001000113	Epileptische Enzephalopathie mit globaler zerebraler Demyelinisierung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1011971000172110	déficit en transporteur mitochondrial AGC1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1017171000172119	encéphalopathie épileptique avec démyélinisation cérébrale généralisée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1011971000172110	déficit en transporteur mitochondrial AGC1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1017171000172119	encéphalopathie épileptique avec démyélinisation cérébrale généralisée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438321001000113	Epileptische Enzephalopathie mit globaler zerebraler Demyelinisierung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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