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Terminology chevron_right Concepts chevron_right 410059004

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410059004
The component that hold information about this concept.
Hydroxymethylglutaric aciduria (disorder)
Hmg-coa lyase 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

Hydroxymethylglutaric aciduria (disorder)

SCTID: 410059004, Primitive, Active


410059004|Hydroxymethylglutaric aciduria (disorder)|
  • en 3-hydroxy-3-methylglutaric aciduria
  • en 3-hydroxy-3-methylglutaryl-coa lyase deficiency
  • en Hmg-coa lyase deficiency
  • en Hydroxymethylglutaric aciduria
  • en Hydroxymethylglutaric aciduria (disorder)

410059004 |Hydroxymethylglutaric aciduria (disorder)|

<<< 410053003 |Clinical manifestation of enzyme deficiency (disorder)| +
    26513001 |Non-amino organic acidemia and/or aciduria (disorder)| +
    1156591005 |Fatty acid oxidation defect (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 42752001 |Due to (attribute)| = 78548001 |Enzymopathy (disorder)| }
Active

5438144012 - 3-hydroxy-3-methylglutaric aciduria (en) View

5438144012
en
Synonym (core metadata concept)
3-hydroxy-3-methylglutaric aciduria
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5438143018 - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (en) View

5438143018
en
Synonym (core metadata concept)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

5438145013 - HMG-CoA lyase deficiency (en) View

5438145013
en
Synonym (core metadata concept)
HMG-CoA lyase deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

2471783019 - Hydroxymethylglutaric aciduria (en) View

2471783019
en
Synonym (core metadata concept)
Hydroxymethylglutaric aciduria
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

2465510016 - Hydroxymethylglutaric aciduria (disorder) (en) View

2465510016
en
Fully specified name (core metadata concept)
Hydroxymethylglutaric aciduria (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

1156591005 View

1156591005
Fatty acid oxidation defect (disorder)
Fatty acid oxidation defect
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

410053003 View

410053003
Clinical manifestation of enzyme deficiency (disorder)
Clinical manifestation of enzyme deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

26513001 View

26513001
Non-amino organic acidemia and/or aciduria (disorder)
Non-amino organic acidemia and/or aciduria
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (9fe526cd-4d9d-51e8-8214-8c0285173088) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E71.1
TRUE
ALWAYS E71.1
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