Spectrin-associated autosomal recessive cerebellar ataxia   763351003

SNOMED CT code


SNOMED code763351003
nameSpectrin-associated autosomal recessive cerebellar ataxia
statusactive
date introduced2018-07-31
fully specified name(s)Spectrin-associated autosomal recessive cerebellar ataxia (disorder)
synonyms
  • Spectrin-associated autosomal recessive cerebellar ataxia
  • Autosomal recessive spinocerebellar ataxia type 14
  • Autosomal recessive cerebellar ataxia, cognitive defect syndrome
  • Spectrin-associated autosomal recessive cerebellar ataxia type 1
attributes - group1
OccurrenceCongenital   255399007
Finding siteCerebellar structure   113305005
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Early onset cerebellar ataxia   230227009
            Spectrin-associated autosomal recessive cerebellar ataxia   763351003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Spectrin-associated autosomal recessive cerebellar ataxia   763351003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Spectrin-associated autosomal recessive cerebellar ataxia   763351003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Spectrin-associated autosomal recessive cerebellar ataxia   763351003

ancestors
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