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Terminology chevron_right Concepts chevron_right 718219002

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718219002
The component that hold information about this concept.
Congenital lactic acidosis saguenay-lac-saint-jean type (disorder)
Leigh syndrome french-canadian type
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

Congenital lactic acidosis saguenay-lac-saint-jean type (disorder)

SCTID: 718219002, Primitive, Active


718219002|Congenital lactic acidosis saguenay-lac-saint-jean type (disorder)|
  • en Congenital lactic acidosis saguenay-lac-saint-jean type
  • en Congenital lactic acidosis saguenay-lac-saint-jean type (disorder)
  • en Cytochrome c oxidase deficiency french-canadian type
  • en Cytochrome oxidase deficiency saguenay-lac-saint-jean type
  • en Leigh syndrome french-canadian type

718219002 |Congenital lactic acidosis saguenay-lac-saint-jean type (disorder)|

<<< 29570005 |Leigh's disease (disorder)| +
    67434000 |Cytochrome-c oxidase deficiency (disorder)| +
    128190004 |Inherited metabolic disorder of nervous system (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3310362017 - Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (en) View

3310362017
en
Synonym (core metadata concept)
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3310361012 - Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) (en) View

3310361012
en
Fully specified name (core metadata concept)
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3311563019 - Cytochrome C oxidase deficiency French-Canadian type (en) View

3311563019
en
Synonym (core metadata concept)
Cytochrome C oxidase deficiency French-Canadian type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3311562012 - Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type (en) View

3311562012
en
Synonym (core metadata concept)
Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3311561017 - Leigh syndrome French-Canadian type (en) View

3311561017
en
Synonym (core metadata concept)
Leigh syndrome French-Canadian type
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (15120426023) - 718219002 -> 128190004 (116680003) View

116680003 |Is a (attribute)|
128190004 |Inherited metabolic disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6595057025) - 718219002 -> 33359002 (116676008) View

116676008 |Associated morphology (attribute)|
33359002 |Degeneration (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6595058024) - 718219002 -> 12738006 (363698007) View

363698007 |Finding site (attribute)|
12738006 |Brain structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (12092682027) - 718219002 -> 12738006 (363698007) View

363698007 |Finding site (attribute)|
12738006 |Brain structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (12092683021) - 718219002 -> 107669003 (116676008) View

116676008 |Associated morphology (attribute)|
107669003 |Degenerative abnormality (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6595056023) - 718219002 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6595054021) - 718219002 -> 29570005 (116680003) View

116680003 |Is a (attribute)|
29570005 |Leigh's disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6595055022) - 718219002 -> 67434000 (116680003) View

116680003 |Is a (attribute)|
67434000 |Cytochrome-c oxidase deficiency (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

128190004 View

128190004
Inherited metabolic disorder of nervous system (disorder)
Inherited metabolic disorder of nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

29570005 View

29570005
Leigh's disease (disorder)
Leigh disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

67434000 View

67434000
Cytochrome-c oxidase deficiency (disorder)
Complex iv deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (b8fd2335-989e-53be-9d9d-068d41cb4392) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G31.8
TRUE
ALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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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