Hereditary hyperekplexia   724351008

SNOMED CT code


SNOMED code724351008
nameHereditary hyperekplexia
statusactive
date introduced2017-07-31
fully specified name(s)Hereditary hyperekplexia (disorder)
synonyms
  • Hereditary hyperekplexia
  • Congenital stiff man syndrome
  • Familial startle disease
  • Hereditary hyperexplexia
  • Kok disease
  • Stiff baby syndrome
attributes - group2
Finding siteSkeletal and/or smooth muscle structure   71616004
OccurrenceCongenital   255399007
attributes - group3
InterpretsReflex   87572000
Has interpretationAbnormal   263654008
attributes - group4
InterpretsMovement   255324009
attributes - group1
OccurrenceCongenital   255399007
Finding siteNervous system structure   25087005
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Myoclonic disorder   127324008
          Hereditary hyperekplexia   724351008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Hereditary hyperekplexia   724351008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Hereditary hyperekplexia   724351008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Hereditary hyperekplexia   724351008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological finding   102957003
      Myoclonus   17450006
        Hyperexplexia   19557000
          Hereditary hyperekplexia   724351008

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