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Terminology chevron_right Concepts chevron_right 1217212009

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1217212009
The component that hold information about this concept.
Mitochondrial pyruvate carrier deficiency (disorder)
Mitochondrial pyruvate carrier 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

Mitochondrial pyruvate carrier deficiency (disorder)

SCTID: 1217212009, Primitive, Active


1217212009|Mitochondrial pyruvate carrier deficiency (disorder)|
  • en Mitochondrial pyruvate carrier deficiency
  • en Mitochondrial pyruvate carrier deficiency (disorder)

1217212009 |Mitochondrial pyruvate carrier deficiency (disorder)|

<<< 128190004 |Inherited metabolic disorder of nervous system (disorder)| +
    53210006 |Inborn error of pyruvate metabolism (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
Active

5035156010 - Mitochondrial pyruvate carrier deficiency (en) View

5035156010
en
Synonym (core metadata concept)
Mitochondrial pyruvate carrier deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

5035157018 - Mitochondrial pyruvate carrier deficiency (disorder) (en) View

5035157018
en
Fully specified name (core metadata concept)
Mitochondrial pyruvate carrier deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
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

53210006 View

53210006
Inborn error of pyruvate metabolism (disorder)
Inborn error of pyruvate metabolism
900000000000074008 |Necessary but not sufficient concept 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

ExtendedMap object (f392b1e8-e53f-5b52-88b5-8d8fd1e38dd7) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E74.4
TRUE
ALWAYS E74.4 | 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)|
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