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Terminology chevron_right Concepts chevron_right 771337007

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771337007
The component that hold information about this concept.
1q21.1 microduplication syndrome (disorder)
Trisomy 1q21.1
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

1q21.1 microduplication syndrome (disorder)

SCTID: 771337007, Primitive, Active


771337007|1q21.1 microduplication syndrome (disorder)|
  • en 1q21.1 microduplication syndrome
  • en 1q21.1 microduplication syndrome (disorder)
  • en Trisomy 1q21.1

771337007 |1q21.1 microduplication 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

3705813014 - 1q21.1 microduplication syndrome (en) View

3705813014
en
Synonym (core metadata concept)
1q21.1 microduplication syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3705811011 - 1q21.1 microduplication syndrome (disorder) (en) View

3705811011
en
Fully specified name (core metadata concept)
1q21.1 microduplication syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3705812016 - Trisomy 1q21.1 (en) View

3705812016
en
Synonym (core metadata concept)
Trisomy 1q21.1
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (13763777022) - 771337007 -> 308490002 (370135005) View

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

Relationship (13763778028) - 771337007 -> 308490002 (370135005) View

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

Relationship (13763779020) - 771337007 -> 82354003 (116680003) View

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

Relationship (9662512025) - 771337007 -> 255399007 (246454002) View

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

Relationship (9662513024) - 771337007 -> 46507000 (363698007) View

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

Relationship (9662514029) - 771337007 -> 312242007 (363698007) View

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

Relationship (9662515028) - 771337007 -> 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 (9662516027) - 771337007 -> 133849008 (116676008) View

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

Relationship (9662517020) - 771337007 -> 255399007 (246454002) View

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

Relationship (9662518026) - 771337007 -> 133849008 (116676008) View

116676008 |Associated morphology (attribute)|
133849008 |Partial trisomy (morphologic abnormality)|
1
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 (b935db46-f424-5a92-a665-3073a2d39e0c) View

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