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Terminology chevron_right Concepts chevron_right 1162440009

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1162440009
The component that hold information about this concept.
Deletion of part of short arm of chromosome 12 (disorder)
Deletion of part of short arm of chromosome 12
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Deletion of part of short arm of chromosome 12 (disorder)

SCTID: 1162440009, Defined, Active


1162440009|Deletion of part of short arm of chromosome 12 (disorder)|
  • en Deletion of part of short arm of chromosome 12
  • en Deletion of part of short arm of chromosome 12 (disorder)

1162440009 |Deletion of part of short arm of chromosome 12 (disorder)|

=== 726382009 |Deletion of part of chromosome 12 (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 17897000 |Chromosome pair 12 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 278145009 |Short arm of chromosome (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

4589391016 - Deletion of part of short arm of chromosome 12 (en) View

4589391016
en
Synonym (core metadata concept)
Deletion of part of short arm of chromosome 12
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4589390015 - Deletion of part of short arm of chromosome 12 (disorder) (en) View

4589390015
en
Fully specified name (core metadata concept)
Deletion of part of short arm of chromosome 12 (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (13881126024) - 1162440009 -> 726382009 (116680003) View

116680003 |Is a (attribute)|
726382009 |Deletion of part of chromosome 12 (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13881127026) - 1162440009 -> 255399007 (246454002) View

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

Relationship (13881128020) - 1162440009 -> 17897000 (363698007) View

363698007 |Finding site (attribute)|
17897000 |Chromosome pair 12 (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13881129028) - 1162440009 -> 371169004 (116676008) View

116676008 |Associated morphology (attribute)|
371169004 |Partial monosomy (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13881130022) - 1162440009 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13881131021) - 1162440009 -> 278145009 (363698007) View

363698007 |Finding site (attribute)|
278145009 |Short arm of chromosome (cell structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13881132025) - 1162440009 -> 371169004 (116676008) View

116676008 |Associated morphology (attribute)|
371169004 |Partial monosomy (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

726382009 View

726382009
Deletion of part of chromosome 12 (disorder)
Deletion of part of chromosome 12
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

770902008 View

770902008
Distal monosomy 12p (disorder)
Distal deletion 12p
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

778007004 View

778007004
12p12.1 microdeletion syndrome (disorder)
Monosomy 12p12.1
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (b6955016-8820-5303-9a5f-c8ceefe12f5b) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q93.5
TRUE
ALWAYS Q93.5
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)|
esc