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Terminology chevron_right Concepts chevron_right 4702003

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4702003
The component that hold information about this concept.
Inherited disorder of folate metabolism (disorder)
Inherited disorder of folate metabolism
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

Inherited disorder of folate metabolism (disorder)

SCTID: 4702003, Primitive, Active


4702003|Inherited disorder of folate metabolism (disorder)|
  • en Inherited disorder of folate metabolism
  • en Inherited disorder of folate metabolism (disorder)

4702003 |Inherited disorder of folate metabolism (disorder)|

<<< 116021002 |Disorder of organic acid metabolism (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

8849015 - Inherited disorder of folate metabolism (en) View

8849015
en
Synonym (core metadata concept)
Inherited disorder of folate metabolism
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

784433018 - Inherited disorder of folate metabolism (disorder) (en) View

784433018
en
Fully specified name (core metadata concept)
Inherited disorder of folate metabolism (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

8850015 - Inherited disorder of folate metabolism, NOS (en) View

8850015
en
Synonym (core metadata concept)
Inherited disorder of folate metabolism, NOS
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
False

86095007 View

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

116021002 View

116021002
Disorder of organic acid metabolism (disorder)
Organic acid metabolism disorder
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

1300128003 View

1300128003
Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder)
Mthfs-related developmental delay, microcephaly, short stature, epilepsy syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

28093001 View

28093001
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)|
True

41797007 View

41797007
5,10-methylenetetrahydrofolate reductase deficiency (disorder)
Methylenetetrahydrofolate reductase deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

59761008 View

59761008
Glutamate formiminotransferase deficiency (disorder)
Figluria
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

62578003 View

62578003
Congenital defect of folate absorption (disorder)
Folate transport defect
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

89579000 View

89579000
Tetrahydrofolate methyltransferase deficiency (disorder)
Thf methyltransferase deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (49bba899-208b-57f3-8ef1-e7fe0f65ad41) 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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