Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT code


SNOMED code770751003
nameSevere motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
synonymsSevere motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEar structure   117590005
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteExtrapyramidal system structure   76375004
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
attributes - group4
InterpretsHearing   47078008
parents
  • Intellectual disability   110359009
  • Dystonia   15802004
  • Hearing loss associated with syndrome   232333009
  • Disorder of ear   25906001
  • Auditory system hereditary disorder   362991006
  • Hereditary disorder of nervous system   363235000
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital sensorineural hearing loss   700453005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Mental disorder   74732009
        Developmental mental disorder   129104009
          Intellectual disability   110359009
            Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of brain   81308009
            Extrapyramidal disease   76349003
              Dystonia   15802004
                Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Clinical history and observation findings   250171008
      Functional finding   118228005
        Hearing finding   118230007
          Hearing disorder   128540005
            Hearing loss   15188001
              Hearing loss associated with syndrome   232333009
                Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of ear   25906001
            Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Ear and auditory finding   118236001
        Disorder of auditory system   362966006
          Auditory system hereditary disorder   362991006
            Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of body system   362965005
          Disorder of nervous system   118940003
            Hereditary disorder of nervous system   363235000
              Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of head   118934005
          Disorder of face   118930001
            Congenital anomaly of face   398302004
              Multiple malformation syndrome with facial defects as major feature   65094009
                Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

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