Ataxia with deafness and intellectual disability syndrome   720517001

SNOMED CT code


SNOMED code720517001
nameAtaxia with deafness and intellectual disability syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Ataxia with deafness and intellectual disability syndrome (disorder)
synonyms
  • Ataxia with deafness and intellectual disability syndrome
  • Reardon Baraitser syndrome
attributes - group2
Pathological processPathological developmental process   308490002
attributes - group4
InterpretsHearing   47078008
attributes - group3
Finding siteAuditory structure   91159003
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group1
Finding siteCerebellar structure   113305005
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
          Ataxia with deafness and intellectual disability syndrome   720517001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              Ataxia with deafness and intellectual disability syndrome   720517001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss associated with syndrome   232333009
              Ataxia with deafness and intellectual disability syndrome   720517001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Ataxia with deafness and intellectual disability syndrome   720517001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Ataxia with deafness and intellectual disability syndrome   720517001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Ataxia with deafness and intellectual disability syndrome   720517001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Ataxia with deafness and intellectual disability syndrome   720517001

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