Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 768471006

Production
add
768471006
The component that hold information about this concept.
16p12.2 microdeletion syndrome (disorder)
16p12.2 microdeletion
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

16p12.2 microdeletion syndrome (disorder)

SCTID: 768471006, Primitive, Active


768471006|16p12.2 microdeletion syndrome (disorder)|
  • en 16p12.2 microdeletion
  • en 16p12.2 microdeletion syndrome
  • en 16p12.2 microdeletion syndrome (disorder)

768471006 |16p12.2 microdeletion syndrome (disorder)|

<<< 82354003 |Multiple system malformation syndrome (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    87006007 |Dominant autosomal hereditary disorder, incomplete penetrance (disorder)| +
    726388008 |Deletion of part of short arm of chromosome 16 (disorder)| :
        { 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)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 39220001 |Chromosome pair 16 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3685711016 - 16p12.2 microdeletion (en) View

3685711016
en
Synonym (core metadata concept)
16p12.2 microdeletion
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3685713018 - 16p12.2 microdeletion syndrome (en) View

3685713018
en
Synonym (core metadata concept)
16p12.2 microdeletion syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3685712011 - 16p12.2 microdeletion syndrome (disorder) (en) View

3685712011
en
Fully specified name (core metadata concept)
16p12.2 microdeletion syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (16346485029) - 768471006 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16346486028) - 768471006 -> 87006007 (116680003) View

116680003 |Is a (attribute)|
87006007 |Dominant autosomal hereditary disorder, incomplete penetrance (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9442928025) - 768471006 -> 39220001 (363698007) View

363698007 |Finding site (attribute)|
39220001 |Chromosome pair 16 (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9443842028) - 768471006 -> 67285006 (116676008) View

116676008 |Associated morphology (attribute)|
67285006 |Deletion of short arm (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13791379021) - 768471006 -> 308490002 (370135005) View

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

Relationship (13791380024) - 768471006 -> 308490002 (370135005) View

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

Relationship (13791381023) - 768471006 -> 278145009 (363698007) View

363698007 |Finding site (attribute)|
278145009 |Short arm of chromosome (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13791382027) - 768471006 -> 82354003 (116680003) View

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

Relationship (13791383021) - 768471006 -> 371169004 (116676008) View

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

Relationship (9442923023) - 768471006 -> 39220001 (363698007) View

363698007 |Finding site (attribute)|
39220001 |Chromosome pair 16 (cell structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9442925027) - 768471006 -> 255399007 (246454002) View

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

Relationship (9442926026) - 768471006 -> 726388008 (116680003) View

116680003 |Is a (attribute)|
726388008 |Deletion of part of short arm of chromosome 16 (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9442927024) - 768471006 -> 255399007 (246454002) View

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

Relationship (9443843022) - 768471006 -> 371169004 (116676008) View

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

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

726388008 View

726388008
Deletion of part of short arm of chromosome 16 (disorder)
Deletion of part of short arm of chromosome 16
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

87006007 View

87006007
Dominant autosomal hereditary disorder, incomplete penetrance (disorder)
Dominant autosomal hereditary disorder, incomplete penetrance
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (3c90cc49-6ee4-5aec-9bc3-c06cbc94f7dc) 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