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Terminology chevron_right Concepts chevron_right 719646006

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719646006
The component that hold information about this concept.
8p11.2 deletion syndrome (disorder)
Monosomy 8p11.2
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

8p11.2 deletion syndrome (disorder)

SCTID: 719646006, Primitive, Active


719646006|8p11.2 deletion syndrome (disorder)|
  • en 8p11.2 deletion syndrome
  • en 8p11.2 deletion syndrome (disorder)
  • en Monosomy 8p11.2

719646006 |8p11.2 deletion syndrome (disorder)|

<<< 19419002 |8p partial monosomy syndrome (disorder)|
        { 116676008 |Associated morphology (attribute)| = 67285006 |Deletion of short arm (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3317475015 - 8p11.2 deletion syndrome (en) View

3317475015
en
Synonym (core metadata concept)
8p11.2 deletion syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3317474016 - 8p11.2 deletion syndrome (disorder) (en) View

3317474016
en
Fully specified name (core metadata concept)
8p11.2 deletion syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3317476019 - Monosomy 8p11.2 (en) View

3317476019
en
Synonym (core metadata concept)
Monosomy 8p11.2
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (6640709026) - 719646006 -> 19419002 (116680003) View

116680003 |Is a (attribute)|
19419002 |8p partial monosomy syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6640711024) - 719646006 -> 255399007 (246454002) View

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

Relationship (6640712028) - 719646006 -> 77826001 (363698007) View

363698007 |Finding site (attribute)|
77826001 |Chromosome pair 8 (cell structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6640714027) - 719646006 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6640715026) - 719646006 -> 77826001 (363698007) View

363698007 |Finding site (attribute)|
77826001 |Chromosome pair 8 (cell structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6642523023) - 719646006 -> 67285006 (116676008) View

116676008 |Associated morphology (attribute)|
67285006 |Deletion of short arm (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6642524028) - 719646006 -> 371169004 (116676008) View

116676008 |Associated morphology (attribute)|
371169004 |Partial monosomy (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

19419002 View

19419002
8p partial monosomy syndrome (disorder)
8p partial monosomy syndrome
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (470c3b99-30e4-5802-bd62-ad7a461aafc1) 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