703522009: Biotin-thiamine-responsive basal ganglia disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\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)
• \Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Biotin-thiamine-responsive basal ganglia disease (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Biotin-thiamine-responsive basal ganglia disease (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Biotin-thiamine-responsive basal ganglia disease (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Biotin-thiamine-responsive basal ganglia disease (disorder)
• \Disease\Disorder of body system\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\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Biotin-thiamine-responsive basal ganglia disease (disorder)
• \Disease\Congenital disease (disorder)\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:

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
3689121000052117	sjukdom i basala ganglierna som svarar på biotin- och tiaminbehandling	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

This concept is not in any reference sets

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