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Terminology chevron_right Concepts chevron_right 765434008

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765434008
The component that hold information about this concept.
Human immunodeficiency virus type i enhancer binding protein 2 related intellectual disability (disorder)
Hivep2-related intellectual disability
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

Human immunodeficiency virus type i enhancer binding protein 2 related intellectual disability (disorder)

SCTID: 765434008, Primitive, Active


765434008|Human immunodeficiency virus type i enhancer binding protein 2 related intellectual disability (disorder)|
  • en Hivep2 (human immunodeficiency virus type i enhancer binding protein 2) related intellectual disability
  • en Hivep2-related intellectual disability
  • en Human immunodeficiency virus type i enhancer binding protein 2 related intellectual disability
  • en Human immunodeficiency virus type i enhancer binding protein 2 related intellectual disability (disorder)

765434008 |Human immunodeficiency virus type i enhancer binding protein 2 related intellectual disability (disorder)|

<<< 82354003 |Multiple system malformation syndrome (disorder)| +
    88425004 |Congenital anomaly of nervous system (disorder)| +
    11164009 |Autosomal dominant hereditary disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          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

3658496016 - HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2) related intellectual disability (en) View

3658496016
en
Synonym (core metadata concept)
HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2) related intellectual disability
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3658495017 - HIVEP2-related intellectual disability (en) View

3658495017
en
Synonym (core metadata concept)
HIVEP2-related intellectual disability
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3658494018 - Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (en) View

3658494018
en
Synonym (core metadata concept)
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3658497013 - Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (disorder) (en) View

3658497013
en
Fully specified name (core metadata concept)
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (9275196020) - 765434008 -> 110359009 (116680003) View

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

Relationship (16317340026) - 765434008 -> 11164009 (116680003) View

116680003 |Is a (attribute)|
11164009 |Autosomal dominant hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16317341027) - 765434008 -> 1362108000 (116680003) View

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

Relationship (16317342023) - 765434008 -> 363070008 (116680003) View

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

Relationship (16317343029) - 765434008 -> 363235000 (116680003) View

116680003 |Is a (attribute)|
363235000 |Hereditary disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094722021) - 765434008 -> 247573007 (363714003) View

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

Relationship (15094723027) - 765434008 -> 260379002 (363713009) View

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

Relationship (15096087023) - 765434008 -> 406208005 (363714003) View

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

Relationship (15096088029) - 765434008 -> 260379002 (363713009) View

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

Relationship (9275199029) - 765434008 -> 118940003 (116680003) View

116680003 |Is a (attribute)|
118940003 |Disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9275200026) - 765434008 -> 255399007 (246454002) View

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

Relationship (9275201027) - 765434008 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9279963025) - 765434008 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10517558028) - 765434008 -> 308490002 (370135005) View

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

Relationship (12095191020) - 765434008 -> 88425004 (116680003) View

116680003 |Is a (attribute)|
88425004 |Congenital anomaly of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9275198021) - 765434008 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10517557022) - 765434008 -> 308490002 (370135005) View

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

Relationship (10545469020) - 765434008 -> 49755003 (116676008) View

116676008 |Associated morphology (attribute)|
49755003 |Morphologically abnormal structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9275195024) - 765434008 -> 82354003 (116680003) View

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

Relationship (9275197027) - 765434008 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (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

88425004 View

88425004
Congenital anomaly of nervous system (disorder)
Dị tật bẩm sinh của hệ thần kinh
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

11164009 View

11164009
Autosomal dominant hereditary disorder (disorder)
Ad - autosomal dominant
900000000000074008 |Necessary but not sufficient concept 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

363235000 View

363235000
Hereditary disorder of nervous system (disorder)
Hereditary disorder of nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (14487496-d972-5889-9339-6f222cb06023) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.8
TRUE
ALWAYS Q87.8 | 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)|
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