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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Biotin-thiamine-responsive basal ganglia disease (disorder)	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	Is a	Disorder of basal ganglia (disorder)	true	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Biotin-thiamine-responsive basal ganglia disease (disorder)	Finding site	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
3009805011	Thiamine-responsive encephalopathy	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
936911000172111	BBGD - biotin-thiamine-responsive basal ganglia disease	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian 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)	Belgian module (core metadata concept)
885151000172117	BBGD - biotin-thiamine-responsive basal ganglia disease	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
1018591000172114	biotineresponsieve basale gangliaziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)