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 - group5
InterpretsMovement   255324009
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
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
  • Developmental hereditary disorder   363070008
  • 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
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Extrapyramidal disease   76349003
          Dystonia   15802004
            Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    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
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome   770751003

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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      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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