Progressive myoclonus epilepsy with ataxia   702326000

SNOMED CT code


SNOMED code702326000
nameProgressive myoclonus epilepsy with ataxia
statusactive
date introduced2014-07-31
fully specified name(s)Progressive myoclonus epilepsy with ataxia (disorder)
synonyms
  • PRICKLE1-related progressive myoclonic epilepsy with ataxia
  • Progressive myoclonic epilepsy 1B
  • Progressive myoclonus epilepsy with ataxia
attributes - group1
Finding siteBrain structure   12738006
parents
  • Progressive myoclonic epilepsy   267581004
  • Hereditary disorder of nervous system   363235000
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            Epilepsy   84757009
              Progressive myoclonic epilepsy   267581004
                Progressive myoclonus epilepsy with ataxia   702326000

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
            Progressive myoclonus epilepsy with ataxia   702326000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Progressive myoclonus epilepsy with ataxia   702326000

ancestors
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cpt crosswalks

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