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Terminology chevron_right Concepts chevron_right 733630004

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733630004
The component that hold information about this concept.
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
Oxoglutaricaciduria
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

Deficiency of alpha-ketoglutarate dehydrogenase (disorder)

SCTID: 733630004, Primitive, Active


733630004|Deficiency of alpha-ketoglutarate dehydrogenase (disorder)|
  • en Deficiency of alpha-ketoglutarate dehydrogenase
  • en Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
  • en Oxoglutaricaciduria

733630004 |Deficiency of alpha-ketoglutarate dehydrogenase (disorder)|

<<< 23853001 |Disorder of the central nervous system (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    124592006 |Deficiency of lyase (disorder)| +
    128190004 |Inherited metabolic disorder of nervous system (disorder)| :
        { 363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3472875015 - Deficiency of alpha-ketoglutarate dehydrogenase (en) View

3472875015
en
Synonym (core metadata concept)
Deficiency of alpha-ketoglutarate dehydrogenase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3472874016 - Deficiency of alpha-ketoglutarate dehydrogenase (disorder) (en) View

3472874016
en
Fully specified name (core metadata concept)
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3472876019 - Oxoglutaricaciduria (en) View

3472876019
en
Synonym (core metadata concept)
Oxoglutaricaciduria
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

128190004 View

128190004
Inherited metabolic disorder of nervous system (disorder)
Inherited metabolic disorder of nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

23853001 View

23853001
Disorder of the central nervous system (disorder)
Encephalomyeloneuropathy
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

124592006 View

124592006
Deficiency of lyase (disorder)
Deficiency of lyase
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (2ccee430-2a18-567e-8a9d-800bbae3e504) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E88.8
TRUE
ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|
esc