Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT code


SNOMED code722282008
nameAgenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)
synonyms
  • Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
  • Graham Cox syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDevelopmental failure of fusion   371520008
Finding siteIris structure   41296002
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of mandible   91609006
Associated morphologyHypoplasia   55199003
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteEntire corpus callosum   362354006
Associated morphologyAgenesis   782173000
OccurrenceCongenital   255399007
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • X-linked recessive hereditary disease   1162976004
  • Congenital micrognathism   32958008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Agenesis of corpus callosum   5102002
  • Congenital coloboma of iris   51485001
  • Multiple malformation syndrome with facial defects as major feature   65094009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of jaw   37156001
          Congenital anomaly of jaw   95473006
            Congenital anomaly of mandible   128224008
              Congenital micrognathism   32958008
                Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Hemianencephaly   85641006
            Aplasia of corpus callosum   204044008
              Agenesis of corpus callosum   5102002
                Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Coloboma of eye   93390002
              Congenital coloboma of iris   51485001
                Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008

ancestors
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