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Terminology chevron_right Concepts chevron_right 718188007

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718188007
The component that hold information about this concept.
8p inverted duplication deletion syndrome (disorder)
8p inverted duplication deletion syndrome
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

8p inverted duplication deletion syndrome (disorder)

SCTID: 718188007, Primitive, Active


718188007|8p inverted duplication deletion syndrome (disorder)|
  • en 8p inverted duplication deletion syndrome
  • en 8p inverted duplication deletion syndrome (disorder)

718188007 |8p inverted duplication deletion syndrome (disorder)|

<<< 48082007 |Anomaly of chromosome pair 8 (disorder)| +
    205728002 |Duplication of chromosome (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 41669009 |Alteration of chromosome structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 77826001 |Chromosome pair 8 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3311426014 - 8p inverted duplication deletion syndrome (en) View

3311426014
en
Synonym (core metadata concept)
8p inverted duplication deletion syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3311425013 - 8p inverted duplication deletion syndrome (disorder) (en) View

3311425013
en
Fully specified name (core metadata concept)
8p inverted duplication deletion syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

48082007 View

48082007
Anomaly of chromosome pair 8 (disorder)
Anomaly of chromosome pair 8
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

205728002 View

205728002
Duplication of chromosome (disorder)
Duplication of chromosome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True
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