Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT code


SNOMED code1172698005
nameRecurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
statusactive
date introduced2021-09-30
fully specified name(s)Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)
synonyms
  • Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome
  • TANGO2-related metabolic encephalopathy, arrhythmia syndrome
  • Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
  • Transport and golgi organisation 2 homolog-related metabolic encephalopathy, arrhythmia syndrome
attributes - group2
Clinical courseRecurrent   255227004
attributes - group3
Finding siteSkeletal muscle structure   127954009
Associated morphologyRhabdomyolysis   89010004
attributes - group5
Pathological processPathological developmental process   308490002
attributes - group1
Finding siteBrain structure   12738006
Associated morphologyDegenerative abnormality   107669003
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group4
Finding siteCardiac conducting system structure   24964005
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Intellectual disability   110359009
  • Rhabdomyolysis   240131006
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Metabolic encephalopathy   50122000
  • Degenerative brain disorder   52522001
  • Recurrent disease   58184002
  • Cardiac arrhythmia associated with genetic disorder   698270004
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Degenerative disorder of muscle   363058009
          Rhabdomyolysis   240131006
            Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic encephalopathy   50122000
          Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Degenerative brain disorder   52522001
            Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Recurrent disease   58184002
        Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Cardiac arrhythmia   698247007
            Cardiac arrhythmia associated with genetic disorder   698270004
              Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome   1172698005

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