Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

SNOMED CT code


SNOMED code763344007
nameCerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)
synonyms
  • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
  • Poretti Boltshauser syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteCerebellar structure   113305005
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteVisual structure   49549006
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
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
          Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Disorder of eye movements   45030009
          Strabismus   22066006
            Oculomotor apraxia   193662007
              Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Cerebellar disorder   223176004
            Dysgenesis of the cerebellum   253171007
              Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007

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