Macrocephaly, intellectual disability, autism syndrome   783089006

SNOMED CT code


SNOMED code783089006
nameMacrocephaly, intellectual disability, autism syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Macrocephaly, intellectual disability, autism syndrome (disorder)
synonymsMacrocephaly, intellectual disability, autism syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyEnlargement   442021009
Finding siteHead structure   69536005
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
Has interpretationAbove reference range   281302008
InterpretsHead circumference   363812007
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Congenital macrocephaly   1145402008
  • Pervasive developmental disorder   35919005
  • Developmental hereditary disorder   363070008
  • 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
          Macrocephaly, intellectual disability, autism syndrome   783089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Macrocephaly, intellectual disability, autism syndrome   783089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Macrocephaly   1145403003
          Congenital macrocephaly   1145402008
            Macrocephaly, intellectual disability, autism syndrome   783089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Mental disorder   74732009
        Developmental mental disorder   129104009
          Disorder of psychological development   192562009
            Pervasive developmental disorder   35919005
              Macrocephaly, intellectual disability, autism syndrome   783089006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Macrocephaly, intellectual disability, autism syndrome   783089006

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
              Macrocephaly, intellectual disability, autism syndrome   783089006

ancestors
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