Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004

SNOMED CT code


SNOMED code724283004
nameHypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
statusactive
date introduced2017-07-31
fully specified name(s)Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
synonyms
  • Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum
  • Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum
  • H-ABC - hypomyelination, atrophy of basal ganglia and cerebellum
  • Hypomyelination with atrophy of basal ganglia and cerebellum syndrome
attributes - group4
Associated morphologyDystrophy   4720007
Finding siteWhite matter structure of brain and spinal cord   389080008
attributes - group3
Associated morphologyAtrophy   13331008
Finding siteCerebellar structure   113305005
attributes - group1
Finding siteBasal ganglion structure   32610002
Associated morphologyAtrophy   13331008
attributes - group2
Associated morphologyMyelin sheath alteration   125495003
Finding siteMyelinated nerve fiber structure   54115001
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004

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
              Cerebral atrophy   278849000
                Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004

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
              Hereditary cerebellar atrophy   431641000124107
                Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Disorder of basal ganglia   70835005
            Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Leukodystrophy   192781003
        TUBB4A-related leukodystrophy   769065000
          Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004

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