Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome   771469002

SNOMED CT code


SNOMED code771469002
nameEarly-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)
synonyms
  • AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
  • Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
  • Autosomal recessive spastic ataxia type 5
  • AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
attributes - group2
OccurrenceChildhood   255398004
Finding siteSpinal cord structure   2748008
Associated morphologyDegenerative abnormality   107669003
attributes - group3
OccurrenceChildhood   255398004
Finding siteCerebrum   83678007
attributes - group4
Clinical courseProgressive   255314001
attributes - group1
OccurrenceChildhood   255398004
Finding siteCerebellar structure   113305005
Associated morphologyDegenerative abnormality   107669003
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome   771469002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Spinocerebellar ataxia   129609000
            Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome   771469002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome   771469002

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
                Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome   771469002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic myelopathy   434371000124108
            Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome   771469002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic brain syndrome   78689005
            Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome   771469002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome   771469002

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