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Terminology chevron_right Concepts chevron_right 720987001

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720987001
The component that hold information about this concept.
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)
Aniridia, ptosis, intellectual disability, familial obesity 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, ptosis, intellectual disability, familial obesity syndrome (disorder)

SCTID: 720987001, Primitive, Active


720987001|Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)|
  • en Aniridia, ptosis, intellectual disability, familial obesity syndrome
  • en Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)

720987001 |Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)|

<<< 82354003 |Multiple system malformation syndrome (disorder)| +
    363343008 |Hereditary disorder of the visual system (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    11164009 |Autosomal dominant hereditary disorder (disorder)| +
    69278003 |Congenital aniridia (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)| }
Active

3322794018 - Aniridia, ptosis, intellectual disability, familial obesity syndrome (en) View

3322794018
en
Synonym (core metadata concept)
Aniridia, ptosis, intellectual disability, familial obesity syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3322793012 - Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) (en) View

3322793012
en
Fully specified name (core metadata concept)
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (6688121024) - 720987001 -> 24216005 (116676008) View

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

Relationship (13069286028) - 720987001 -> 363070008 (116680003) View

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

Relationship (13182757021) - 720987001 -> 418560003 (116676008) View

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

Relationship (10530103028) - 720987001 -> 308490002 (370135005) View

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

Relationship (6688117028) - 720987001 -> 11164009 (116680003) View

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

Relationship (6688118022) - 720987001 -> 69278003 (116680003) View

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

Relationship (6688119025) - 720987001 -> 82354003 (116680003) View

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

Relationship (6688120020) - 720987001 -> 363343008 (116680003) View

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

Relationship (6688122028) - 720987001 -> 255399007 (246454002) View

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

Relationship (6688123022) - 720987001 -> 41296002 (363698007) View

363698007 |Finding site (attribute)|
41296002 |Iris structure (body structure)|
1
900000000000011006 |Inferred relationship (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

82354003 View

82354003
Multiple system malformation syndrome (disorder)
Multiple system malformation syndrome
900000000000074008 |Necessary but not sufficient concept 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

ExtendedMap object (5420464f-d7c0-583c-9aa1-c7f798a7be82) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q13.1
TRUE
ALWAYS Q13.1 | 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)|

ExtendedMap object (9ea9b162-3b05-54e7-9699-e36f9e45ac5e) 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)|
esc