Intellectual disability, brachydactyly, Pierre Robin syndrome   763744009

SNOMED CT code


SNOMED code763744009
nameIntellectual disability, brachydactyly, Pierre Robin syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)
synonymsIntellectual disability, brachydactyly, Pierre Robin syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyAbnormally short growth   11182007
OccurrenceCongenital   255399007
Finding siteDigit structure   82680008
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Brachydactyly   43476002
  • Robin sequence   4602007
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
          Intellectual disability, brachydactyly, Pierre Robin syndrome   763744009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Intellectual disability, brachydactyly, Pierre Robin syndrome   763744009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Longitudinal deficiency of part of limb   716638009
          Brachydactyly   43476002
            Intellectual disability, brachydactyly, Pierre Robin syndrome   763744009

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
              Robin sequence   4602007
                Intellectual disability, brachydactyly, Pierre Robin syndrome   763744009

ancestors
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