703522009: maladie des noyaux gris centraux sensible à la biotine et à la thiamine (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)

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

\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)

\Finding of head region\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)

\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Biotin-thiamine-responsive basal ganglia disease (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Biotin-thiamine-responsive basal ganglia disease (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Biotin-thiamine-responsive basal ganglia disease (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Biotin-thiamine-responsive basal ganglia disease (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)
\Disease\Congenital disease\Biotin-thiamine-responsive basal ganglia disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Biotin-thiamine-responsive basal ganglia disease (disorder)	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	est un(e) (attribut)	Disorder of basal ganglia (disorder)	true	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Biotin-thiamine-responsive basal ganglia disease (disorder)	localisation d'une constatation (attribut)	Basal ganglion structure (body structure)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3009183015	Thiamine transporter-2 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009257019	Thiamine metabolism dysfunction syndrome 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009598010	Biotin-thiamine-responsive basal ganglia disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009749016	Biotin-responsive basal ganglia disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009782018	Biotin-thiamine-responsive basal ganglia disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
734281000241119	maladie des noyaux gris centraux sensible à la biotine et à la thiamine (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
936911000172111	BBGD - biotin-thiamine-responsive basal ganglia disease	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
988271000172116	maladie des noyaux gris centraux sensible à la biotine et à la thiamine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)