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Terminology chevron_right Concepts chevron_right 763615003

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  • Language with ID “9c2779fb-d4ec-59e4-b2d5-be19f4015d02” doesn’t exist. Perhaps it was deleted?
763615003
The component that hold information about this concept.
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)
Aortic arch anomaly, facial dysmorphism, 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

Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)

SCTID: 763615003, Primitive, Active


763615003|Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)|
  • en Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
  • en Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)

763615003 |Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)|

<<< 11164009 |Autosomal dominant hereditary disorder (disorder)| +
    65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| +
    111321007 |Right aortic arch (disorder)| +
    363005004 |Cardiovascular system hereditary disorder (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 125231008 |Transposition, right (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 57034009 |Aortic arch 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

3643032015 - Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (en) View

3643032015
en
Synonym (core metadata concept)
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3643031010 - Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) (en) View

3643031010
en
Fully specified name (core metadata concept)
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (9128090026) - 763615003 -> 110359009 (116680003) View

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

Relationship (16316616021) - 763615003 -> 1362108000 (116680003) View

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

Relationship (15094678029) - 763615003 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094679021) - 763615003 -> 260379002 (363713009) View

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

Relationship (15096043025) - 763615003 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096044020) - 763615003 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069899020) - 763615003 -> 363070008 (116680003) View

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

Relationship (9238491027) - 763615003 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10525580025) - 763615003 -> 308490002 (370135005) View

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

Relationship (10525582022) - 763615003 -> 308490002 (370135005) View

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

Relationship (10546220025) - 763615003 -> 49755003 (116676008) View

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

Relationship (9122114028) - 763615003 -> 11164009 (116680003) View

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

Relationship (9122115027) - 763615003 -> 65094009 (116680003) View

116680003 |Is a (attribute)|
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9122117024) - 763615003 -> 111321007 (116680003) View

116680003 |Is a (attribute)|
111321007 |Right aortic arch (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9122118025) - 763615003 -> 363005004 (116680003) View

116680003 |Is a (attribute)|
363005004 |Cardiovascular system hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9122120027) - 763615003 -> 255399007 (246454002) View

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

Relationship (9129235024) - 763615003 -> 125231008 (116676008) View

116676008 |Associated morphology (attribute)|
125231008 |Transposition, right (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9129236020) - 763615003 -> 57034009 (363698007) View

363698007 |Finding site (attribute)|
57034009 |Aortic arch structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9224848028) - 763615003 -> 255399007 (246454002) View

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

Relationship (9238492023) - 763615003 -> 89545001 (363698007) View

363698007 |Finding site (attribute)|
89545001 |Face 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

111321007 View

111321007
Right aortic arch (disorder)
Right aortic arch
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

65094009 View

65094009
Multiple malformation syndrome with facial defects as major feature (disorder)
Multiple malformation syndrome with facial defects as major feature
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363005004 View

363005004
Cardiovascular system hereditary disorder (disorder)
Cardiovascular system hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (299e2a99-665c-5fd7-a2c6-b6926d4b54b4) 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