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Terminology chevron_right Concepts chevron_right 1003869005

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1003869005
The component that hold information about this concept.
Proximal duplication of long arm of chromosome 2 (disorder)
Proximal duplication of long arm of chromosome 2
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

Proximal duplication of long arm of chromosome 2 (disorder)

SCTID: 1003869005, Primitive, Active


1003869005|Proximal duplication of long arm of chromosome 2 (disorder)|
  • en Proximal duplication of long arm of chromosome 2
  • en Proximal duplication of long arm of chromosome 2 (disorder)

1003869005 |Proximal duplication of long arm of chromosome 2 (disorder)|

<<< 5982001 |2q partial trisomy syndrome (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 113354003 |Chromosome pair 2 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 312242007 |Long arm of chromosome (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

4166858019 - Proximal duplication of long arm of chromosome 2 (en) View

4166858019
en
Synonym (core metadata concept)
Proximal duplication of long arm of chromosome 2
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

4166859010 - Proximal duplication of long arm of chromosome 2 (disorder) (en) View

4166859010
en
Fully specified name (core metadata concept)
Proximal duplication of long arm of chromosome 2 (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (13189205024) - 1003869005 -> 5982001 (116680003) View

116680003 |Is a (attribute)|
5982001 |2q partial trisomy syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13189207027) - 1003869005 -> 255399007 (246454002) View

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

Relationship (13189208021) - 1003869005 -> 113354003 (363698007) View

363698007 |Finding site (attribute)|
113354003 |Chromosome pair 2 (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13189209029) - 1003869005 -> 133849008 (116676008) View

116676008 |Associated morphology (attribute)|
133849008 |Partial trisomy (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13189219024) - 1003869005 -> 312242007 (363698007) View

363698007 |Finding site (attribute)|
312242007 |Long arm of chromosome (cell structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13189220029) - 1003869005 -> 133849008 (116676008) View

116676008 |Associated morphology (attribute)|
133849008 |Partial trisomy (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13189221025) - 1003869005 -> 255399007 (246454002) View

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

5982001 View

5982001
2q partial trisomy syndrome (disorder)
2q partial trisomy syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (a5e5c2dd-35a4-57e5-812a-ae7dd7acb241) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q92.3
TRUE
ALWAYS Q92.3
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