Hyperekplexia epilepsy syndrome   785726009

SNOMED CT code


SNOMED code785726009
nameHyperekplexia epilepsy syndrome
statusactive
date introduced2019-07-31
fully specified name(s)Hyperekplexia epilepsy syndrome (disorder)
synonymsHyperekplexia epilepsy syndrome
attributes - group1
Has interpretationAbnormal   263654008
InterpretsReflex   87572000
attributes - group4
Pathological processPathological developmental process   308490002
Finding siteBrain structure   12738006
attributes - group2
Finding siteSkeletal and/or smooth muscle structure   71616004
attributes - group6
InterpretsMovement   255324009
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
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
          Hyperekplexia epilepsy syndrome   785726009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Hyperekplexia epilepsy syndrome   785726009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          Developmental and epileptic encephalopathy   1275631007
            Hyperekplexia epilepsy syndrome   785726009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Hyperekplexia epilepsy syndrome   785726009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological finding   102957003
      Myoclonus   17450006
        Hyperexplexia   19557000
          Hyperekplexia epilepsy syndrome   785726009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hyperekplexia epilepsy syndrome   785726009

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
            Hyperekplexia epilepsy syndrome   785726009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Hyperekplexia epilepsy syndrome   785726009

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