Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome   763136000

SNOMED CT code


SNOMED code763136000
nameCharcot-Marie-Tooth disease, deafness, intellectual disability syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder)
synonyms
  • Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
  • Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
  • Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres
attributes - group3
Pathological processPathological developmental process   308490002
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group4
InterpretsHearing   47078008
attributes - group2
OccurrenceCongenital   255399007
Finding siteEar structure   117590005
attributes - group1
OccurrenceCongenital   255399007
Finding sitePeripheral nervous system structure   3058005
parents
  • Intellectual disability   110359009
  • Hearing loss associated with syndrome   232333009
  • Disorder of ear   25906001
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary motor and sensory neuropathy   398100001
  • 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
          Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome   763136000

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
              Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome   763136000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome   763136000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome   763136000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome   763136000

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
            Hereditary peripheral neuropathy   65017003
              Hereditary motor and sensory neuropathy   398100001
                Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome   763136000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome   763136000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome   763136000

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