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Terminology chevron_right Concepts chevron_right 765485000

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765485000
The component that hold information about this concept.
Ring chromosome 2 syndrome (disorder)
Ring chromosome 2
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Ring chromosome 2 syndrome (disorder)

SCTID: 765485000, Defined, Active


765485000|Ring chromosome 2 syndrome (disorder)|
  • en Ring chromosome 2
  • en Ring chromosome 2 syndrome
  • en Ring chromosome 2 syndrome (disorder)

765485000 |Ring chromosome 2 syndrome (disorder)|

=== 1010276004 |Ring chromosome (disorder)| +
    82354003 |Multiple system malformation syndrome (disorder)| +
    32299009 |Anomaly of chromosome pair 2 (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 23345003 |Ring chromosome (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 113354003 |Chromosome pair 2 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3658951019 - Ring chromosome 2 (en) View

3658951019
en
Synonym (core metadata concept)
Ring chromosome 2
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3658950018 - Ring chromosome 2 syndrome (en) View

3658950018
en
Synonym (core metadata concept)
Ring chromosome 2 syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3658949018 - Ring chromosome 2 syndrome (disorder) (en) View

3658949018
en
Fully specified name (core metadata concept)
Ring chromosome 2 syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (13765756021) - 765485000 -> 82354003 (116680003) View

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

Relationship (13765757028) - 765485000 -> 308490002 (370135005) View

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

Relationship (9275186027) - 765485000 -> 268294001 (116680003) View

116680003 |Is a (attribute)|
268294001 |Chromosome replaced with ring or dicentric (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13202502023) - 765485000 -> 1010276004 (116680003) View

116680003 |Is a (attribute)|
1010276004 |Ring chromosome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9275184029) - 765485000 -> 32299009 (116680003) View

116680003 |Is a (attribute)|
32299009 |Anomaly of chromosome pair 2 (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9275185028) - 765485000 -> 255399007 (246454002) View

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

Relationship (9275187020) - 765485000 -> 23345003 (116676008) View

116676008 |Associated morphology (attribute)|
23345003 |Ring chromosome (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9275188026) - 765485000 -> 113354003 (363698007) View

363698007 |Finding site (attribute)|
113354003 |Chromosome pair 2 (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

1010276004 View

1010276004
Ring chromosome (disorder)
Ring chromosome
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

32299009 View

32299009
Anomaly of chromosome pair 2 (disorder)
Anomaly of chromosome pair 2
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 (dba05661-2311-5ace-bb48-85573a1d7fe9) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q93.2
TRUE
ALWAYS Q93.2
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)|
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