Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002

SNOMED CT code


SNOMED code733088002
namePreaxial polydactyly, colobomata, intellectual disability syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)
synonyms
  • Preaxial polydactyly, colobomata, intellectual disability syndrome
  • Pfeiffer Mayer syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteThumb structure   76505004
OccurrenceCongenital   255399007
Associated morphologySupernumerary structure   91431006
attributes - group1
Finding siteEye structure   81745001
OccurrenceCongenital   255399007
Associated morphologyDevelopmental failure of fusion   371520008
Pathological processPathological developmental process   308490002
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Radial polydactyly   205135003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Autosomal recessive hereditary disorder   85995004
  • Coloboma of eye   93390002
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
          Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002

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
              Radial polydactyly   205135003
                Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002

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
              Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002

ancestors
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