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Terminology chevron_right Concepts chevron_right 768927001

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768927001
The component that hold information about this concept.
Trisomy 1q syndrome (disorder)
Duplication 1q
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

Trisomy 1q syndrome (disorder)

SCTID: 768927001, Primitive, Active


768927001|Trisomy 1q syndrome (disorder)|
  • en Duplication 1q
  • en Trisomy 1q syndrome
  • en Trisomy 1q syndrome (disorder)

768927001 |Trisomy 1q syndrome (disorder)|

<<< 82354003 |Multiple system malformation syndrome (disorder)| +
    768931007 |Partial trisomy of long arm of chromosome 1 (disorder)| :
        { 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)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 46507000 |Chromosome pair 1 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3687515014 - Duplication 1q (en) View

3687515014
en
Synonym (core metadata concept)
Duplication 1q
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3687514013 - Trisomy 1q syndrome (en) View

3687514013
en
Synonym (core metadata concept)
Trisomy 1q syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3687513019 - Trisomy 1q syndrome (disorder) (en) View

3687513019
en
Fully specified name (core metadata concept)
Trisomy 1q syndrome (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (13763774026) - 768927001 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13763775025) - 768927001 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13763776029) - 768927001 -> 82354003 (116680003) View

116680003 |Is a (attribute)|
82354003 |Multiple system malformation syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9464973028) - 768927001 -> 133849008 (116676008) View

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

Relationship (9464974023) - 768927001 -> 768931007 (116680003) View

116680003 |Is a (attribute)|
768931007 |Partial trisomy of long arm of chromosome 1 (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9464975024) - 768927001 -> 133849008 (116676008) View

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

Relationship (9464976020) - 768927001 -> 312242007 (363698007) View

363698007 |Finding site (attribute)|
312242007 |Long arm of chromosome (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9464977027) - 768927001 -> 255399007 (246454002) View

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

Relationship (9464978021) - 768927001 -> 255399007 (246454002) View

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

Relationship (9464979029) - 768927001 -> 46507000 (363698007) View

363698007 |Finding site (attribute)|
46507000 |Chromosome pair 1 (cell structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

768931007 View

768931007
Partial trisomy of long arm of chromosome 1 (disorder)
Partial trisomy of long arm of chromosome 1
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

82354003 View

82354003
Multiple system malformation syndrome (disorder)
Multiple system malformation syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (992c7e3f-de2c-589d-804a-6fd2fe5dad43) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q92.2
TRUE
ALWAYS Q92.2
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