Dandy-Walker malformation with postaxial polydactyly syndrome   733094005

SNOMED CT code


SNOMED code733094005
nameDandy-Walker malformation with postaxial polydactyly syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Dandy-Walker malformation with postaxial polydactyly syndrome (disorder)
synonyms
  • Dandy-Walker malformation with postaxial polydactyly syndrome
  • Pierquin syndrome
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital malrotation   48641006
Finding siteCerebellar vermis structure   58501004
attributes - group3
Finding siteCerebellar vermis structure   58501004
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyHypoplasia   55199003
attributes - group1
Finding siteDigit structure   82680008
OccurrenceCongenital   255399007
Associated morphologySupernumerary structure   91431006
Pathological processPathological developmental process   308490002
attributes - group4
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCystic dilatation   125269003
Finding siteInfratentorial brain structure   21031007
attributes - group5
Pathological processPathological developmental process   308490002
Associated morphologyCystic dilatation   125269003
Finding siteFourth ventricle structure   35918002
OccurrenceCongenital   255399007
parents
  • Dandy-Walker syndrome   14447001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Polydactyly   367506006
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Lesion of brain   301766008
        Cystic malformation of posterior fossa   35111000119109
          Dandy-Walker syndrome   14447001
            Dandy-Walker malformation with postaxial polydactyly syndrome   733094005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Dandy-Walker malformation with postaxial polydactyly syndrome   733094005

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
            Dandy-Walker malformation with postaxial polydactyly syndrome   733094005

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
              Dandy-Walker malformation with postaxial polydactyly syndrome   733094005

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
                Dandy-Walker malformation with postaxial polydactyly syndrome   733094005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Dandy-Walker malformation with postaxial polydactyly syndrome   733094005

ancestors
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