Porencephaly, microcephaly, bilateral congenital cataract syndrome   773627004

SNOMED CT code


SNOMED code773627004
namePorencephaly, microcephaly, bilateral congenital cataract syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)
synonymsPorencephaly, microcephaly, bilateral congenital cataract syndrome
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteStructure of lens of left eye   88258005
Associated morphologyOpacity   128305008
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCystic dilatation   125269003
Finding siteBrain structure   12738006
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyOpacity   128305008
Finding siteStructure of lens of right eye   72345007
parents
  • Bilateral congenital cataract of eyes   346721000119108
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Congenital porencephaly   38353004
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of eye   371405004
          Disorder of left eye proper   1290030002
            Disorder of bilateral eyes   456181000124104
              Bilateral cataracts   95722004
                Bilateral congenital cataract of eyes   346721000119108
                  Porencephaly, microcephaly, bilateral congenital cataract syndrome   773627004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Porencephaly, microcephaly, bilateral congenital cataract syndrome   773627004

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
            Porencephaly, microcephaly, bilateral congenital cataract syndrome   773627004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Porencephaly, microcephaly, bilateral congenital cataract syndrome   773627004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Lesion of brain   301766008
        Congenital porencephaly   38353004
          Porencephaly, microcephaly, bilateral congenital cataract syndrome   773627004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Porencephaly, microcephaly, bilateral congenital cataract syndrome   773627004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Porencephaly, microcephaly, bilateral congenital cataract syndrome   773627004

ancestors
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