Spinocerebellar ataxia dysmorphism syndrome   733033001

SNOMED CT code


SNOMED code733033001
nameSpinocerebellar ataxia dysmorphism syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Spinocerebellar ataxia dysmorphism syndrome (disorder)
synonymsSpinocerebellar ataxia dysmorphism syndrome
attributes - group4
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSpinal cord structure   2748008
Associated morphologyDegenerative abnormality   107669003
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFoot structure   56459004
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteCerebellar structure   113305005
Associated morphologyDegenerative abnormality   107669003
parents
  • Spinocerebellar ataxia   129609000
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Dysgenesis of the cerebellum   253171007
  • Congenital anomaly of foot   253966001
  • Congenital anomaly of spinal cord   81042008
  • Autosomal recessive hereditary disorder   85995004
  • Congenital degeneration of nervous system   95477007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Clinical history and observation findings   250171008
      Finding of coordination   298314008
        Ataxia   20262006
          Hereditary ataxia   763597000
            Spinocerebellar ataxia   129609000
              Spinocerebellar ataxia dysmorphism syndrome   733033001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Congenital anomaly of limb   60475009
            Multiple malformation syndrome with facial-limb defects as major feature   23359005
              Spinocerebellar ataxia dysmorphism syndrome   733033001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of brain   81308009
            Cerebellar disorder   223176004
              Dysgenesis of the cerebellum   253171007
                Spinocerebellar ataxia dysmorphism syndrome   733033001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Congenital abnormality of lower limb and pelvic girdle   253937004
          Congenital anomaly of lower limb   84773003
            Congenital anomaly of foot   253966001
              Spinocerebellar ataxia dysmorphism syndrome   733033001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Central nervous system finding   246556002
        Disorder of the central nervous system   23853001
          Congenital anomaly of central nervous system   128124001
            Congenital anomaly of spinal cord   81042008
              Spinocerebellar ataxia dysmorphism syndrome   733033001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Spinocerebellar ataxia dysmorphism syndrome   733033001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Congenital degeneration of nervous system   95477007
          Spinocerebellar ataxia dysmorphism syndrome   733033001

ancestors
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