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Terminology chevron_right Concepts chevron_right 770902008

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770902008
The component that hold information about this concept.
Distal monosomy 12p (disorder)
Distal deletion 12p
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

Distal monosomy 12p (disorder)

SCTID: 770902008, Primitive, Active


770902008|Distal monosomy 12p (disorder)|
  • en 12p13.33 microdeletion syndrome
  • en Distal deletion 12p
  • en Distal monosomy 12p
  • en Distal monosomy 12p (disorder)

770902008 |Distal monosomy 12p (disorder)|

<<< 1162440009 |Deletion of part of short arm of chromosome 12 (disorder)| +
    276654001 |Congenital malformation (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 17897000 |Chromosome pair 12 (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)| = 278145009 |Short arm of chromosome (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3703349019 - 12p13.33 microdeletion syndrome (en) View

3703349019
en
Synonym (core metadata concept)
12p13.33 microdeletion syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3703347017 - Distal deletion 12p (en) View

3703347017
en
Synonym (core metadata concept)
Distal deletion 12p
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3703346014 - Distal monosomy 12p (en) View

3703346014
en
Synonym (core metadata concept)
Distal monosomy 12p
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3703348010 - Distal monosomy 12p (disorder) (en) View

3703348010
en
Fully specified name (core metadata concept)
Distal monosomy 12p (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (9643890025) - 770902008 -> 726382009 (116680003) View

116680003 |Is a (attribute)|
726382009 |Deletion of part of chromosome 12 (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13881133024) - 770902008 -> 1162440009 (116680003) View

116680003 |Is a (attribute)|
1162440009 |Deletion of part of short arm of chromosome 12 (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13881134029) - 770902008 -> 276654001 (116680003) View

116680003 |Is a (attribute)|
276654001 |Congenital malformation (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13881135028) - 770902008 -> 308490002 (370135005) View

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

Relationship (13881136027) - 770902008 -> 308490002 (370135005) View

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

Relationship (9643887020) - 770902008 -> 371169004 (116676008) View

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

Relationship (9643888026) - 770902008 -> 255399007 (246454002) View

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

Relationship (9643889023) - 770902008 -> 17897000 (363698007) View

363698007 |Finding site (attribute)|
17897000 |Chromosome pair 12 (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9643891026) - 770902008 -> 255399007 (246454002) View

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

Relationship (9643892022) - 770902008 -> 278145009 (363698007) View

363698007 |Finding site (attribute)|
278145009 |Short arm of chromosome (cell structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9643893028) - 770902008 -> 371169004 (116676008) View

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

1162440009 View

1162440009
Deletion of part of short arm of chromosome 12 (disorder)
Deletion of part of short arm of chromosome 12
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

276654001 View

276654001
Congenital malformation (disorder)
Dị tật bẩm sinh
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (6d63683e-808a-5a81-a66b-140f41bf73b0) 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)|
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