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Terminology chevron_right Concepts chevron_right 787175002

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787175002
The component that hold information about this concept.
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)
Ank3-related intellectual disability, sleep disturbance 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

Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)

SCTID: 787175002, Primitive, Active


787175002|Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)|
  • en Ank3-related intellectual disability, sleep disturbance syndrome
  • en Ankyrin 3 related intellectual disability, sleep disturbance syndrome
  • en Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)

787175002 |Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    44186003 |Dyssomnia (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
Active

3774809018 - ANK3-related intellectual disability, sleep disturbance syndrome (en) View

3774809018
en
Synonym (core metadata concept)
ANK3-related intellectual disability, sleep disturbance syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3774810011 - Ankyrin 3 related intellectual disability, sleep disturbance syndrome (en) View

3774810011
en
Synonym (core metadata concept)
Ankyrin 3 related intellectual disability, sleep disturbance syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3774808014 - Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) (en) View

3774808014
en
Fully specified name (core metadata concept)
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (11534026024) - 787175002 -> 110359009 (116680003) View

116680003 |Is a (attribute)|
110359009 |Intellectual disability|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16316866029) - 787175002 -> 1362108000 (116680003) View

116680003 |Is a (attribute)|
1362108000 |Genetic intellectual disability (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15095307024) - 787175002 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15095308025) - 787175002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096671021) - 787175002 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096672025) - 787175002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069774025) - 787175002 -> 363070008 (116680003) View

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

Relationship (11534027026) - 787175002 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11534029028) - 787175002 -> 44186003 (116680003) View

116680003 |Is a (attribute)|
44186003 |Dyssomnia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11573502028) - 787175002 -> 308490002 (370135005) View

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

1362108000 View

1362108000
Genetic intellectual disability (disorder)
Genetic intellectual disability
900000000000073002 |Sufficiently defined by necessary conditions definition status (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

44186003 View

44186003
Dyssomnia (disorder)
Dyssomnia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (a56326b5-0527-5f47-b081-434710370162) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G93.8
TRUE
ALWAYS G93.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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