703522009: biotine-responsieve basale ganglia-ziekte (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

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

\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)

\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 foetus and/or newborn\Congenital disease (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)

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

102931000146118 biotine-responsieve basale ganglia-ziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

981111000146115 biotine-responsieve basale ganglia-ziekte (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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
Biotin-thiamine-responsive basal ganglia disease (disorder)	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets