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Terminology chevron_right Concepts chevron_right 724098008

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724098008
The component that hold information about this concept.
Monosomy 9q22.3 syndrome (disorder)
Monosomy 9q22.3
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

Monosomy 9q22.3 syndrome (disorder)

SCTID: 724098008, Primitive, Active


724098008|Monosomy 9q22.3 syndrome (disorder)|
  • en 9q22.3 deletion syndrome
  • en Microdeletion 9q22.3
  • en Monosomy 9q22.3
  • en Monosomy 9q22.3 syndrome
  • en Monosomy 9q22.3 syndrome (disorder)

724098008 |Monosomy 9q22.3 syndrome (disorder)|

<<< 43420005 |9q partial monosomy syndrome (disorder)|
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 13526007 |Chromosome pair 9 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 64329008 |Deletion of long arm (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 13526007 |Chromosome pair 9 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

4009498017 - 9q22.3 deletion syndrome (en) View

4009498017
en
Synonym (core metadata concept)
9q22.3 deletion syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3430705013 - Microdeletion 9q22.3 (en) View

3430705013
en
Synonym (core metadata concept)
Microdeletion 9q22.3
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3430706014 - Monosomy 9q22.3 (en) View

3430706014
en
Synonym (core metadata concept)
Monosomy 9q22.3
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3430704012 - Monosomy 9q22.3 syndrome (en) View

3430704012
en
Synonym (core metadata concept)
Monosomy 9q22.3 syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3430703018 - Monosomy 9q22.3 syndrome (disorder) (en) View

3430703018
en
Fully specified name (core metadata concept)
Monosomy 9q22.3 syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (6874256029) - 724098008 -> 43420005 (116680003) View

116680003 |Is a (attribute)|
43420005 |9q partial monosomy syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6874258028) - 724098008 -> 255399007 (246454002) View

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

Relationship (6874259020) - 724098008 -> 13526007 (363698007) View

363698007 |Finding site (attribute)|
13526007 |Chromosome pair 9 (cell structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6874261027) - 724098008 -> 255399007 (246454002) View

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

Relationship (6874262023) - 724098008 -> 13526007 (363698007) View

363698007 |Finding site (attribute)|
13526007 |Chromosome pair 9 (cell structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6878988023) - 724098008 -> 371169004 (116676008) View

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

Relationship (6878989026) - 724098008 -> 64329008 (116676008) View

116676008 |Associated morphology (attribute)|
64329008 |Deletion of long arm (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

43420005 View

43420005
9q partial monosomy syndrome (disorder)
9q partial monosomy syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (0f309b05-480c-5cdb-b89f-a258139014d5) 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