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Terminology chevron_right Concepts chevron_right 782744007

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782744007
The component that hold information about this concept.
Lipoic acid synthetase deficiency (disorder)
Lipoic acid synthetase deficiency
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

Lipoic acid synthetase deficiency (disorder)

SCTID: 782744007, Primitive, Active


782744007|Lipoic acid synthetase deficiency (disorder)|
  • en Lipoic acid synthetase deficiency
  • en Lipoic acid synthetase deficiency (disorder)

782744007 |Lipoic acid synthetase deficiency (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    23853001 |Disorder of the central nervous system (disorder)| +
    128190004 |Inherited metabolic disorder of nervous system (disorder)| +
    240096000 |Mitochondrial cytopathy (disorder)| :
        { 363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3755568012 - Lipoic acid synthetase deficiency (en) View

3755568012
en
Synonym (core metadata concept)
Lipoic acid synthetase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3755567019 - Lipoic acid synthetase deficiency (disorder) (en) View

3755567019
en
Fully specified name (core metadata concept)
Lipoic acid synthetase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (11226995025) - 782744007 -> 255399007 (246454002) View

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

Relationship (11226996029) - 782744007 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11226997022) - 782744007 -> 23853001 (116680003) View

116680003 |Is a (attribute)|
23853001 |Disorder of the central nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11226998028) - 782744007 -> 21483005 (363698007) View

363698007 |Finding site (attribute)|
21483005 |Structure of central nervous system (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11226999020) - 782744007 -> 128190004 (116680003) View

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

Relationship (11227000023) - 782744007 -> 240096000 (116680003) View

116680003 |Is a (attribute)|
240096000 |Mitochondrial cytopathy (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

23853001 View

23853001
Disorder of the central nervous system (disorder)
Encephalomyeloneuropathy
900000000000073002 |Sufficiently defined by necessary conditions 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

240096000 View

240096000
Mitochondrial cytopathy (disorder)
Mitochondrial disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (3af939f7-9a3d-5ae3-955d-bffe055b6a80) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E88.8
TRUE
ALWAYS E88.8 | 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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