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Terminology chevron_right Concepts chevron_right 124295007

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124295007
The component that hold information about this concept.
Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) (disorder)
Deficiency of hexosephosphate aminotransferase
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

Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) (disorder)

SCTID: 124295007, Primitive, Active


124295007|Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) (disorder)|
  • en Deficiency of glucosamine-6-phosphate isomerase (glutamine-forming)
  • en Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerising)
  • en Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing)
  • en Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) (disorder)
  • en Deficiency of hexosephosphate aminotransferase

124295007 |Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) (disorder)|

<<< 124237001 |Deficiency of transferase (disorder)|
Active

203998016 - Deficiency of glucosamine-6-phosphate isomerase (glutamine-forming) (en) View

203998016
en
Synonym (core metadata concept)
Deficiency of glucosamine-6-phosphate isomerase (glutamine-forming)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

473220017 - Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerising) (en) View

473220017
en
Synonym (core metadata concept)
Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerising)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

203999012 - Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) (en) View

203999012
en
Synonym (core metadata concept)
Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

727895019 - Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) (disorder) (en) View

727895019
en
Fully specified name (core metadata concept)
Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerizing) (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

203997014 - Deficiency of hexosephosphate aminotransferase (en) View

203997014
en
Synonym (core metadata concept)
Deficiency of hexosephosphate aminotransferase
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (690277028) - 124295007 -> 91689009 (363698007) View

363698007 |Finding site (attribute)|
91689009 |Body system structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (157317022) - 124295007 -> 124237001 (116680003) View

116680003 |Is a (attribute)|
124237001 |Deficiency of transferase (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

124237001 View

124237001
Deficiency of transferase (disorder)
Deficiency of transferase
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (fa4b6269-a1fd-57c7-9655-5f49c91d729a) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E88.8
TRUE
ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE
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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