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