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Terminology chevron_right Concepts chevron_right 703522009

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703522009
The component that hold information about this concept.
Biotin-thiamine-responsive basal ganglia disease (disorder)
Thiamine transporter-2 deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Biotin-thiamine-responsive basal ganglia disease (disorder)

SCTID: 703522009, Primitive, Active


703522009|Biotin-thiamine-responsive basal ganglia disease (disorder)|
  • en Biotin-responsive basal ganglia disease
  • en Biotin-thiamine-responsive basal ganglia disease
  • en Biotin-thiamine-responsive basal ganglia disease (disorder)
  • en Thiamine metabolism dysfunction syndrome 2
  • en Thiamine transporter-2 deficiency

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

<<< 66091009 |Congenital disease (disorder)| +
    70835005 |Disorder of basal ganglia (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 32610002 |Basal ganglion structure (body structure)| }
Active

3009749016 - Biotin-responsive basal ganglia disease (en) View

3009749016
en
Synonym (core metadata concept)
Biotin-responsive basal ganglia disease
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3009782018 - Biotin-thiamine-responsive basal ganglia disease (en) View

3009782018
en
Synonym (core metadata concept)
Biotin-thiamine-responsive basal ganglia disease
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3009598010 - Biotin-thiamine-responsive basal ganglia disease (disorder) (en) View

3009598010
en
Fully specified name (core metadata concept)
Biotin-thiamine-responsive basal ganglia disease (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3009257019 - Thiamine metabolism dysfunction syndrome 2 (en) View

3009257019
en
Synonym (core metadata concept)
Thiamine metabolism dysfunction syndrome 2
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3009805011 - Thiamine-responsive encephalopathy (en) View

3009805011
en
Synonym (core metadata concept)
Thiamine-responsive encephalopathy
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
False

3009183015 - Thiamine transporter-2 deficiency (en) View

3009183015
en
Synonym (core metadata concept)
Thiamine transporter-2 deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

66091009 View

66091009
Congenital disease (disorder)
Congenital disease
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

70835005 View

70835005
Disorder of basal ganglia (disorder)
Disease of basal ganglia
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363235000 View

363235000
Hereditary disorder of nervous system (disorder)
Hereditary disorder of nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True
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