Ataxia-telangiectasia syndrome   68504005

SNOMED CT code


SNOMED code68504005
nameAtaxia-telangiectasia syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Ataxia-telangiectasia syndrome (disorder)
synonyms
  • Ataxia-telangiectasia syndrome
  • Louis-Bar syndrome
  • Ataxia telangiectasia
  • Ataxia telangiectasia syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group6
Pathological processAbnormal immune process   769247005
attributes - group1
Finding siteVascular structure   59820001
Associated morphologyTelangiectasis   112641009
attributes - group5
Finding siteCerebellar structure   113305005
attributes - group3
Associated withChromosomal disorder   409709004
attributes - group4
Finding siteSpinal cord structure   2748008
parents
  • Immunodeficiency associated with chromosomal abnormality   234632005
  • Telangiectasia disorder   247479008
  • Congenital immunodeficiency disease   36138009
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of immune system   363138005
  • Hereditary disorder of nervous system   363235000
  • Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
  • Hereditary cancer-predisposing syndrome   699346009
  • Autosomal recessive hereditary disorder   85995004
  • Central nervous system complication   87536007
  • Spinocerebellar disease   91502009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Immunodeficiency disorder   234532001
          Primary immune deficiency disorder   58606001
            Immunodeficiency associated with chromosomal abnormality   234632005
              Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Soft tissue lesion   239953001
          Telangiectasia disorder   247479008
            Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Hereditary disorder of immune system   363138005
          Ataxia-telangiectasia syndrome   68504005

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
            Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
                Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Central nervous system complication   87536007
          Ataxia-telangiectasia syndrome   68504005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Cerebellar disorder   223176004
            Spinocerebellar disease   91502009
              Ataxia-telangiectasia syndrome   68504005

ancestors
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