Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

SNOMED CT code


SNOMED code721207002
nameSeizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
synonyms
  • Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
  • SESAME syndrome
  • SESAME (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome
  • EAST (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome
attributes - group3
Pathological processPathological developmental process   308490002
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group1
Finding siteBrain structure   12738006
attributes - group2
Finding siteRenal tubule structure   58471003
attributes - group4
Finding siteAuditory structure   91159003
attributes - group5
InterpretsHearing   47078008
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
          Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Hereditary nephropathy   367591000119105
              Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Sensorineural hearing loss   60700002
              Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Disorder of renal parenchyma   767094002
              Renal tubular disorder   95568003
                Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome   721207002

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