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Terminology chevron_right Concepts chevron_right 725286002

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725286002
The component that hold information about this concept.
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme a synthase (disorder)
Hmg-coenzyme a synthase 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

Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme a synthase (disorder)

SCTID: 725286002, Primitive, Active


725286002|Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme a synthase (disorder)|
  • en 3-hydroxy-3-methylglutaryl-coa synthase deficiency
  • en 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency
  • en Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme a synthase
  • en Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme a synthase (disorder)
  • en Hmg-coenzyme a synthase deficiency

725286002 |Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme a synthase (disorder)|

<<< 39929009 |Disorder of fatty acid metabolism (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    129456006 |Specific enzyme deficiency (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3440705010 - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (en) View

3440705010
en
Synonym (core metadata concept)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3440704014 - 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency (en) View

3440704014
en
Synonym (core metadata concept)
3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3440706011 - Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (en) View

3440706011
en
Synonym (core metadata concept)
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3440703015 - Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) (en) View

3440703015
en
Fully specified name (core metadata concept)
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3440707019 - HMG-coenzyme A synthase deficiency (en) View

3440707019
en
Synonym (core metadata concept)
HMG-coenzyme A synthase deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

39929009 View

39929009
Disorder of fatty acid metabolism (disorder)
Disorder of fat oxidation
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

129456006 View

129456006
Specific enzyme deficiency (disorder)
Specific enzyme deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (c425f5d7-b34f-5227-aaa5-28d276fddfaa) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E71.3
TRUE
ALWAYS E71.3 | 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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