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Terminology chevron_right Concepts chevron_right 720468000

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720468000
The component that hold information about this concept.
Aniridia and intellectual disability syndrome (disorder)
Aniridia and intellectual disability 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

Aniridia and intellectual disability syndrome (disorder)

SCTID: 720468000, Primitive, Active


720468000|Aniridia and intellectual disability syndrome (disorder)|
  • en Aniridia and intellectual disability syndrome
  • en Aniridia and intellectual disability syndrome (disorder)

720468000 |Aniridia and intellectual disability syndrome (disorder)|

<<< 1362108000 |Genetic intellectual disability (disorder)| +
    69278003 |Congenital aniridia (disorder)| +
    363343008 |Hereditary disorder of the visual system (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    11164009 |Autosomal dominant hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 41296002 |Iris structure (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

3320943011 - Aniridia and intellectual disability syndrome (en) View

3320943011
en
Synonym (core metadata concept)
Aniridia and intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3320942018 - Aniridia and intellectual disability syndrome (disorder) (en) View

3320942018
en
Fully specified name (core metadata concept)
Aniridia and intellectual disability syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (9127887022) - 720468000 -> 110359009 (116680003) View

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

Relationship (16316731024) - 720468000 -> 1362108000 (116680003) View

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

Relationship (15094977020) - 720468000 -> 247573007 (363714003) View

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

Relationship (15094978026) - 720468000 -> 260379002 (363713009) View

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

Relationship (15096341023) - 720468000 -> 406208005 (363714003) View

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

Relationship (15096342027) - 720468000 -> 260379002 (363713009) View

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

Relationship (6683644024) - 720468000 -> 24216005 (116676008) View

116676008 |Associated morphology (attribute)|
24216005 |Congenital absence (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13069222029) - 720468000 -> 363070008 (116680003) View

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

Relationship (13185243025) - 720468000 -> 418560003 (116676008) View

116676008 |Associated morphology (attribute)|
418560003 |Absence (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10531541020) - 720468000 -> 308490002 (370135005) View

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

Relationship (6683642023) - 720468000 -> 91138005 (116680003) View

116680003 |Is a (attribute)|
91138005 |Mental retardation (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6683640026) - 720468000 -> 11164009 (116680003) View

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

Relationship (6683641027) - 720468000 -> 69278003 (116680003) View

116680003 |Is a (attribute)|
69278003 |Congenital aniridia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6683643029) - 720468000 -> 363343008 (116680003) View

116680003 |Is a (attribute)|
363343008 |Hereditary disorder of the visual system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6683645020) - 720468000 -> 255399007 (246454002) View

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

Relationship (6683646021) - 720468000 -> 41296002 (363698007) View

363698007 |Finding site (attribute)|
41296002 |Iris structure (body structure)|
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

11164009 View

11164009
Autosomal dominant hereditary disorder (disorder)
Ad - autosomal dominant
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

69278003 View

69278003
Congenital aniridia (disorder)
Aniridia
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363343008 View

363343008
Hereditary disorder of the visual system (disorder)
Hereditary disorder of the visual system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True
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