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Terminology chevron_right Concepts chevron_right 28093001

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28093001
The component that hold information about this concept.
Methylene tetrahydrofolate methyltransferase reductase deficiency and homocystinuria (disorder)
Methylene thf reductase deficiency and homocystinuria
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

Methylene tetrahydrofolate methyltransferase reductase deficiency and homocystinuria (disorder)

SCTID: 28093001, Primitive, Active


28093001|Methylene tetrahydrofolate methyltransferase reductase deficiency and homocystinuria (disorder)|
  • en Methylene tetrahydrofolate methyltransferase reductase deficiency and homocystinuria
  • en Methylene tetrahydrofolate methyltransferase reductase deficiency and homocystinuria (disorder)
  • en Methylene thf reductase deficiency and homocystinuria

28093001 |Methylene tetrahydrofolate methyltransferase reductase deficiency and homocystinuria (disorder)|

<<< 4702003 |Inherited disorder of folate metabolism (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    78548001 |Enzymopathy (disorder)| +
    11282001 |Homocystinuria (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

2913596015 - Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (en) View

2913596015
en
Synonym (core metadata concept)
Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

2913687014 - Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder) (en) View

2913687014
en
Fully specified name (core metadata concept)
Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

758734012 - Methylene THF reductase deficiency AND homocystinuria (disorder) (en) View

758734012
en
Fully specified name (core metadata concept)
Methylene THF reductase deficiency AND homocystinuria (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
False

47038017 - Methylene THF reductase deficiency and homocystinuria (en) View

47038017
en
Synonym (core metadata concept)
Methylene THF reductase deficiency and homocystinuria
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
False

47037010 - Methylene THF reductase deficiency AND homocystinuria (en) View

47037010
en
Synonym (core metadata concept)
Methylene THF reductase deficiency AND homocystinuria
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
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

11282001 View

11282001
Homocystinuria (disorder)
Homocystinuria
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 (ec37ada4-fc11-573c-9814-0748f6563af3) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E53.8
TRUE
ALWAYS E53.8
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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