Myoclonic epilepsy myopathy sensory ataxia   699328003

SNOMED CT code


SNOMED code699328003
nameMyoclonic epilepsy myopathy sensory ataxia
statusactive
date introduced2014-01-31
fully specified name(s)Myoclonic epilepsy myopathy sensory ataxia (disorder)
synonyms
  • MEMSA - myoclonic epilepsy myopathy sensory ataxia
  • Spinocerebellar ataxia with epilepsy
  • Myoclonic epilepsy myopathy sensory ataxia
attributes - group1
Finding siteCerebellar structure   113305005
Associated morphologyDegenerative abnormality   107669003
attributes - group3
Associated morphologyDegenerative abnormality   107669003
Finding siteSpinal cord structure   2748008
attributes - group2
OccurrenceCongenital   255399007
parents
  • Inherited metabolic disorder of nervous system   128190004
  • Depletion of mitochondrial DNA   237995002
  • Hereditary cerebellar degeneration   37650008
  • Autosomal recessive hereditary disorder   85995004
  • Spinocerebellar disease   91502009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Myoclonic epilepsy myopathy sensory ataxia   699328003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
            Disorder of mitochondrial respiratory chain complexes   237986005
              Depletion of mitochondrial DNA   237995002
                Myoclonic epilepsy myopathy sensory ataxia   699328003

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
            Hereditary cerebellar degeneration   37650008
              Myoclonic epilepsy myopathy sensory ataxia   699328003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Myoclonic epilepsy myopathy sensory ataxia   699328003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Cerebellar disorder   223176004
            Spinocerebellar disease   91502009
              Myoclonic epilepsy myopathy sensory ataxia   699328003

ancestors
sorted most to least specific
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