Progressive myoclonic epilepsy type 9   1228857005

SNOMED CT code


SNOMED code1228857005
nameProgressive myoclonic epilepsy type 9
statusactive
date introduced2022-05-31
fully specified name(s)Progressive myoclonic epilepsy type 9 (disorder)
synonyms
  • Progressive myoclonic epilepsy type 9
  • Progressive myoclonic epilepsy due to LMNB2 deficiency
  • Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency
  • Progressive myoclonus epilepsy type 9
  • PME (progressive myoclonic epilepsy) type 9
attributes - group1
Clinical courseProgressive   255314001
attributes - group3
InterpretsMovement   255324009
attributes - group2
Finding siteBrain structure   12738006
parents
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 myoclonic epilepsy type 9   1228857005

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 myoclonic epilepsy type 9   1228857005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Progressive myoclonic epilepsy type 9   1228857005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic brain syndrome   78689005
            Progressive myoclonic epilepsy type 9   1228857005

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 myoclonic epilepsy type 9   1228857005

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