Developmental malformation, deafness, dystonia syndrome   721092005

SNOMED CT code


SNOMED code721092005
nameDevelopmental malformation, deafness, dystonia syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Developmental malformation, deafness, dystonia syndrome (disorder)
synonymsDevelopmental malformation, deafness, dystonia syndrome
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group5
InterpretsMovement   255324009
attributes - group4
Finding siteExtrapyramidal system structure   76375004
attributes - group2
Finding siteCochlear structure   80169004
attributes - group3
InterpretsHearing   47078008
parents
  • Autosomal dominant hereditary disorder   11164009
  • Hearing loss associated with syndrome   232333009
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Generalized dystonia   425492002
  • Multiple system malformation syndrome   82354003
  • Sensory hearing loss   85571008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Developmental malformation, deafness, dystonia syndrome   721092005

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
              Developmental malformation, deafness, dystonia syndrome   721092005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Developmental malformation, deafness, dystonia syndrome   721092005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Developmental malformation, deafness, dystonia syndrome   721092005

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
            Developmental malformation, deafness, dystonia syndrome   721092005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Extrapyramidal disease   76349003
          Dystonia   15802004
            Generalized dystonia   425492002
              Developmental malformation, deafness, dystonia syndrome   721092005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Developmental malformation, deafness, dystonia syndrome   721092005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Sensory hearing loss   85571008
                Developmental malformation, deafness, dystonia syndrome   721092005

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