Progressive myoclonic epilepsy type 3   783064000

SNOMED CT code


SNOMED code783064000
nameProgressive myoclonic epilepsy type 3
statusactive
date introduced2019-07-31
fully specified name(s)Progressive myoclonic epilepsy type 3 (disorder)
synonyms
  • Progressive myoclonic epilepsy due to KCTD7 deficiency
  • Progressive myoclonus epilepsy type 3
  • Progressive myoclonic epilepsy type 3
  • PME (progressive myoclonic epilepsy) type 3
attributes - group1
Finding siteCerebrum   83678007
OccurrenceCongenital   255399007
Associated morphologyDegenerative abnormality   107669003
attributes - group2
Clinical courseProgressive   255314001
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Chronic metabolic disorder   128289001
  • Progressive myoclonic epilepsy   267581004
  • Cerebral degeneration   418143002
  • Infantile neuronal ceroid lipofuscinosis   58258004
  • Chronic brain syndrome   78689005
  • 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
            Progressive myoclonic epilepsy type 3   783064000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Progressive myoclonic epilepsy type 3   783064000

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 3   783064000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Degenerative brain disorder   52522001
            Cerebral degeneration   418143002
              Progressive myoclonic epilepsy type 3   783064000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Neuronal ceroid lipofuscinosis   42012007
          Infantile neuronal ceroid lipofuscinosis   58258004
            Progressive myoclonic epilepsy type 3   783064000

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 3   783064000

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 3   783064000

ancestors
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