734434007: epilepsie pyridoxino-dépendante (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Pyridoxine-dependent epilepsy (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Pyridoxine-dependent epilepsy (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxine-dependent epilepsy (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Pyridoxine-dependent epilepsy (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\Pyridoxine-dependent epilepsy (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Pyridoxine-dependent epilepsy (disorder)

\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Pyridoxine-dependent epilepsy (disorder)

\Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\Pyridoxine-dependent epilepsy (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pyridoxine-dependent epilepsy (disorder)
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyridoxine-dependent epilepsy (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pyridoxine-dependent epilepsy (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Pyridoxine-dependent epilepsy (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxine-dependent epilepsy (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\Pyridoxine-dependent epilepsy (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\Pyridoxine-dependent epilepsy (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Pyridoxine-dependent epilepsy (disorder)
\Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)
\Disease\trouble métabolique\Disorder of neurometabolic regulation\Pyridoxine-dependent epilepsy (disorder)
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Pyridoxine-dependent epilepsy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyridoxine-dependent epilepsy (disorder)	est un(e) (attribut)	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	est un(e) (attribut)	Disorder of neurometabolic regulation	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	est un(e) (attribut)	Epilepsy	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	est un(e) (attribut)	Inborn error of metabolism	false	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	localisation d'une constatation (attribut)	structure du cerveau	true	Inferred relationship	Some	3
Pyridoxine-dependent epilepsy (disorder)	est défini par la manifestation de (attribut)	convulsion	false	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Pyridoxine-dependent epilepsy (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	5
Pyridoxine-dependent epilepsy (disorder)	localisation d'une constatation (attribut)	Structure of endocrine system (body structure)	true	Inferred relationship	Some	4
Pyridoxine-dependent epilepsy (disorder)	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1004341000172117	déficit en antiquitine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3506707017	Pyridoxine-dependent epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3506708010	Pyridoxine-dependent epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3506709019	Antiquitin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3506710012	Vitamin B6-dependent seizures	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
763721000241116	epilepsie pyridoxino-dépendante (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
941301000172117	epilepsie pyridoxino-dépendante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)