771223000: Infantile epileptic dyskinetic encephalopathy (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy
\Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy
\Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy

\Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy
\Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Infantile epileptic dyskinetic encephalopathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile epileptic dyskinetic encephalopathy
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Infantile epileptic dyskinetic encephalopathy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Infantile epileptic dyskinetic encephalopathy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Infantile epileptic dyskinetic encephalopathy
\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)\Infantile epileptic dyskinetic encephalopathy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Infantile epileptic dyskinetic encephalopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3705165013 Infantile epileptic dyskinetic encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705166014 Infantile epileptic dyskinetic encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705169019 A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3705170018 A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3705165013 Infantile epileptic dyskinetic encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705166014 Infantile epileptic dyskinetic encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705169019 A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3705170018 A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3389721001000119 Enzephalopathie, epileptisch-dyskinetische infantile de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

900511000172114 encéphalopathie épileptique-dyskinétique infantile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

900511000172114 encéphalopathie épileptique-dyskinétique infantile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3389721001000119 Enzephalopathie, epileptisch-dyskinetische infantile de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile epileptic dyskinetic encephalopathy	Finding site	Extrapyramidal system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Infantile epileptic dyskinetic encephalopathy	Is a	Dystonia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Infantile epileptic dyskinetic encephalopathy	Is a	A type of epilepsy characterized by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying etiology is thought to be the only cause of developmental impairment.	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Infantile epileptic dyskinetic encephalopathy	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Infantile epileptic dyskinetic encephalopathy	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Infantile epileptic dyskinetic encephalopathy	Is a	Developmental and epileptic encephalopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
3705165013	Infantile epileptic dyskinetic encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705166014	Infantile epileptic dyskinetic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705169019	A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705170018	A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705165013	Infantile epileptic dyskinetic encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705166014	Infantile epileptic dyskinetic encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705169019	A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705170018	A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3389721001000119	Enzephalopathie, epileptisch-dyskinetische infantile	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
900511000172114	encéphalopathie épileptique-dyskinétique infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
900511000172114	encéphalopathie épileptique-dyskinétique infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389721001000119	Enzephalopathie, epileptisch-dyskinetische infantile	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module