771223000: Infantile epileptic dyskinetic encephalopathy (disorder)

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

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

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

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)
\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)

\Extrapyramidal disease\Dystonia\Infantile epileptic dyskinetic encephalopathy (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)

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

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

4200801000052114 epileptisk dyskinetisk encefalopati hos spädbarn 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
Infantile epileptic dyskinetic encephalopathy (disorder)	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	1
Infantile epileptic dyskinetic encephalopathy (disorder)	Is a	Dystonia	true	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	2
Infantile epileptic dyskinetic encephalopathy (disorder)	Is a	Epileptic encephalopathy (disorder)	true	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	Interprets	Movement	true	Inferred relationship	Some	3
Infantile epileptic dyskinetic encephalopathy (disorder)	Is a	X-linked recessive hereditary disease	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
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
4200801000052114	epileptisk dyskinetisk encefalopati hos spädbarn	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)