Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome   723612001

SNOMED CT code


SNOMED code723612001
nameSpinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)
synonymsSpinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
attributes - group4
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCystic dilatation   125269003
Finding siteInfratentorial brain structure   21031007
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteStructure of anterior pole of lens   28993004
Associated morphologyOpacity   128305008
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital malrotation   48641006
Finding siteCerebellar vermis structure   58501004
attributes - group3
Pathological processPathological developmental process   308490002
Finding siteCerebellar vermis structure   58501004
OccurrenceCongenital   255399007
Associated morphologyHypoplasia   55199003
attributes - group5
Pathological processPathological developmental process   308490002
Associated morphologyCystic dilatation   125269003
Finding siteFourth ventricle structure   35918002
OccurrenceCongenital   255399007
parents
  • Dandy-Walker syndrome   14447001
  • Distal spinal muscular atrophy   230247001
  • Congenital anterior polar cataract   253224008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • Multiple system malformation syndrome   82354003
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
            Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome   723612001

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
            Hereditary motor neuron disease   49793008
              Spinal muscular atrophy   5262007
                Distal spinal muscular atrophy   230247001
                  Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome   723612001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Congenital polar cataract   253223002
                Congenital anterior polar cataract   253224008
                  Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome   723612001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome   723612001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome   723612001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome   723612001

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