SNOMED CT Concept  138875005

Clinical finding  404684003

Finding of coordination  298314008

Ataxia  20262006

Hereditary ataxia  763597000

Spinocerebellar ataxia  129609000

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency   782721009

SNOMED CT code


SNOMED code782721009
nameAutosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency
statusactive
date introduced2019-07-31
fully specified name(s)Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder)
synonyms
  • Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency
  • Autosomal recessive spinocerebellar ataxia type 15
  • SCAR15 - autosomal recessive spinocerebellar ataxia type 15
  • Salih ataxia
  • Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency
  • Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency
attributes - group2
Finding siteSpinal cord structure   2748008
Associated morphologyDegenerative abnormality   107669003
attributes - group1
Finding siteCerebellar structure   113305005
Associated morphologyDegenerative abnormality   107669003
parents
  • Spinocerebellar ataxia   129609000
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Spinocerebellar ataxia   129609000
            Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency   782721009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency   782721009

ancestors
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