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Terminology chevron_right Concepts chevron_right 41797007

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41797007
The component that hold information about this concept.
5,10-methylenetetrahydrofolate reductase deficiency (disorder)
Methylenetetrahydrofolate reductase 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

5,10-methylenetetrahydrofolate reductase deficiency (disorder)

SCTID: 41797007, Primitive, Active


41797007|5,10-methylenetetrahydrofolate reductase deficiency (disorder)|
  • en 5,10-methylenetetrahydrofolate reductase deficiency
  • en 5,10-methylenetetrahydrofolate reductase deficiency (disorder)
  • en Methylenetetrahydrofolate reductase deficiency

41797007 |5,10-methylenetetrahydrofolate reductase deficiency (disorder)|

<<< 28882002 |Disorder of sulfur-bearing amino acid metabolism (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    78548001 |Enzymopathy (disorder)| +
    4702003 |Inherited disorder of folate metabolism (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

69726016 - 5,10-Methylenetetrahydrofolate reductase deficiency (en) View

69726016
en
Synonym (core metadata concept)
5,10-Methylenetetrahydrofolate reductase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

778625014 - 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) (en) View

778625014
en
Fully specified name (core metadata concept)
5,10-Methylenetetrahydrofolate reductase deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3035567016 - Methylenetetrahydrofolate reductase deficiency (en) View

3035567016
en
Synonym (core metadata concept)
Methylenetetrahydrofolate reductase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

4702003 View

4702003
Inherited disorder of folate metabolism (disorder)
Inherited disorder of folate metabolism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

28882002 View

28882002
Disorder of sulfur-bearing amino acid metabolism (disorder)
Sulfuraminoacidemia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

78548001 View

78548001
Enzymopathy (disorder)
Enzymopathy
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 (47e334fb-db1f-5aee-b1df-07d9ed35a7df) View

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