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Terminology chevron_right Concepts chevron_right 59761008

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59761008
The component that hold information about this concept.
Glutamate formiminotransferase deficiency (disorder)
Figluria
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

Glutamate formiminotransferase deficiency (disorder)

SCTID: 59761008, Primitive, Active


59761008|Glutamate formiminotransferase deficiency (disorder)|
  • en Deficiency of glutamate formiminotransferase
  • en Deficiency of glutamate formyltransferase
  • en Formiminoglutamic aciduria
  • en Glutamate formiminotransferase deficiency
  • en Glutamate formiminotransferase deficiency (disorder)
  • en Figluria

59761008 |Glutamate formiminotransferase deficiency (disorder)|

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

498531019 - Deficiency of glutamate formiminotransferase (en) View

498531019
en
Synonym (core metadata concept)
Deficiency of glutamate formiminotransferase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

498532014 - Deficiency of glutamate formyltransferase (en) View

498532014
en
Synonym (core metadata concept)
Deficiency of glutamate formyltransferase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

99271017 - Formiminoglutamic aciduria (en) View

99271017
en
Synonym (core metadata concept)
Formiminoglutamic aciduria
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

99269017 - Glutamate formiminotransferase deficiency (en) View

99269017
en
Synonym (core metadata concept)
Glutamate formiminotransferase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

798639019 - Glutamate formiminotransferase deficiency (disorder) (en) View

798639019
en
Fully specified name (core metadata concept)
Glutamate formiminotransferase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

99270016 - FIGLUria (en) View

99270016
en
Synonym (core metadata concept)
FIGLUria
900000000000017005 |Entire term case sensitive (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 (3ae43991-eee8-56e8-ac19-bcc609105828) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E72.8
TRUE
ALWAYS E72.8
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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