726702005: Epileptic encephalopathy with global cerebral demyelination (disorder)

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

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (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)\Congenital anomaly of central nervous system\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 (disorder)\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\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\Generalized epilepsy\Epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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 body system\Hereditary disorder by system\Hereditary disorder of nervous system\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\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 (disorder)\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Epileptic encephalopathy with global cerebral demyelination (disorder)
\Disease\Developmental 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

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

4002391000052116 epileptisk encefalopati med global cerebral demyelinisering sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	missbildningar i storhjärnan	false	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	Epileptic encephalopathy (disorder)	true	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Associated morphology	Hypomyelination	false	Inferred relationship	Some	2
Epileptic encephalopathy with global cerebral demyelination (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Epileptic encephalopathy with global cerebral demyelination (disorder)	Finding site	Cerebrum	false	Inferred relationship	Some	2
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	medfödda och utvecklingsbetingade anomalier i nervsystemet	false	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Epileptic encephalopathy with global cerebral demyelination (disorder)	Associated morphology	Hypomyelination	true	Inferred relationship	Some	1
Epileptic encephalopathy with global cerebral demyelination (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	1
Epileptic encephalopathy with global cerebral demyelination (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	Congenital anomaly of cerebrum (disorder)	true	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
4002391000052116	epileptisk encefalopati med global cerebral demyelinisering	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)