Intellectual disability, polydactyly, uncombable hair syndrome   763742008

SNOMED CT code


SNOMED code763742008
nameIntellectual disability, polydactyly, uncombable hair syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Intellectual disability, polydactyly, uncombable hair syndrome (disorder)
synonyms
  • Intellectual disability, polydactyly, uncombable hair syndrome
  • Kozlowski Krajewska syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteHair structure   386045008
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologySupernumerary structure   91431006
Finding siteDigit structure   82680008
OccurrenceCongenital   255399007
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Polydactyly   367506006
  • Congenital anomaly of hair   65033000
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, polydactyly, uncombable hair syndrome   763742008

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, polydactyly, uncombable hair syndrome   763742008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Polydactyly   367506006
              Intellectual disability, polydactyly, uncombable hair syndrome   763742008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Congenital anomaly of hair   65033000
              Intellectual disability, polydactyly, uncombable hair syndrome   763742008

ancestors
sorted most to least specific
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