771223000: encéphalopathie épileptique-dyskinétique infantile (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\dystonie\Infantile epileptic dyskinetic encephalopathy (disorder)

\constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Infantile epileptic dyskinetic encephalopathy (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Infantile epileptic dyskinetic encephalopathy (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Infantile epileptic dyskinetic encephalopathy (disorder)

\affection de la tête\Disorder of brain (disorder)\...

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

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

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

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Infantile epileptic dyskinetic encephalopathy (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Infantile epileptic dyskinetic encephalopathy (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Infantile epileptic dyskinetic encephalopathy (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Infantile epileptic dyskinetic encephalopathy (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Infantile epileptic dyskinetic encephalopathy (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Infantile epileptic dyskinetic encephalopathy (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Infantile epileptic dyskinetic encephalopathy (disorder)
\Disease\Movement disorder\Extrapyramidal disease\dystonie\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

770311000241113 encéphalopathie épileptique-dyskinétique infantile (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

900511000172114 encéphalopathie épileptique-dyskinétique infantile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile epileptic dyskinetic encephalopathy (disorder)	interprète (attribut)	Movement (observable entity)	true	Inferred relationship	Some	3
Infantile epileptic dyskinetic encephalopathy (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	localisation d'une constatation (attribut)	Extrapyramidal system structure	true	Inferred relationship	Some	1
Infantile epileptic dyskinetic encephalopathy (disorder)	est un(e) (attribut)	dystonie	true	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	localisation d'une constatation (attribut)	structure du cerveau	true	Inferred relationship	Some	2
Infantile epileptic dyskinetic encephalopathy (disorder)	est un(e) (attribut)	Epileptic encephalopathy (disorder)	true	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	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
770311000241113	encéphalopathie épileptique-dyskinétique infantile (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
900511000172114	encéphalopathie épileptique-dyskinétique infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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