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Terminology chevron_right Concepts chevron_right 765137006

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765137006
The component that hold information about this concept.
Methylmalonic acidemia due to methylmalonyl-coenzyme a epimerase deficiency (disorder)
Methylmalonic acidemia due to methylmalonyl-coa racemase deficiency
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Methylmalonic acidemia due to methylmalonyl-coenzyme a epimerase deficiency (disorder)

SCTID: 765137006, Defined, Active


765137006|Methylmalonic acidemia due to methylmalonyl-coenzyme a epimerase deficiency (disorder)|
  • en Mcee-gene related methylmalonic acidaemia due to methylmalonyl-coenzyme a epimerase deficiency
  • en Mcee-gene related methylmalonic acidemia due to methylmalonyl-coenzyme a epimerase deficiency
  • en Methylmalonic acidaemia due to methylmalonyl-coa epimerase deficiency
  • en Methylmalonic acidaemia due to methylmalonyl-coa racemase deficiency
  • en Methylmalonic acidaemia due to methylmalonyl-coenzyme a epimerase deficiency
  • en Methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency
  • en Methylmalonic acidemia due to methylmalonyl-coa racemase deficiency
  • en Methylmalonic acidemia due to methylmalonyl-coenzyme a epimerase deficiency
  • en Methylmalonic acidemia due to methylmalonyl-coenzyme a epimerase deficiency (disorder)

765137006 |Methylmalonic acidemia due to methylmalonyl-coenzyme a epimerase deficiency (disorder)|

=== 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    42393006 |Methylmalonic acidemia (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 42752001 |Due to (attribute)| = 1293018007 |Deficiency of methylmalonyl-coenzyme a epimerase (disorder)| }
Active

5316189013 - MCEE-gene related methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency (en) View

5316189013
en
Synonym (core metadata concept)
MCEE-gene related methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

5316190016 - MCEE-gene related methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (en) View

5316190016
en
Synonym (core metadata concept)
MCEE-gene related methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3657146014 - Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency (en) View

3657146014
en
Synonym (core metadata concept)
Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3657149019 - Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency (en) View

3657149019
en
Synonym (core metadata concept)
Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3657151015 - Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency (en) View

3657151015
en
Synonym (core metadata concept)
Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3657145013 - Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (en) View

3657145013
en
Synonym (core metadata concept)
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3657144012 - Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency (en) View

3657144012
en
Synonym (core metadata concept)
Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3657150019 - Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (en) View

3657150019
en
Synonym (core metadata concept)
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3657148010 - Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) (en) View

3657148010
en
Fully specified name (core metadata concept)
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

42393006 View

42393006
Methylmalonic acidemia (disorder)
Methylmalonic acidemia
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

86095007 View

86095007
Inborn error of metabolism (disorder)
Inborn error of metabolism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (a9bdd2be-ff8a-52b1-b296-356807278717) View

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