Leukodystrophy   192781003

SNOMED CT code


SNOMED code192781003
nameLeukodystrophy
statusactive
date introduced2002-01-31
fully specified name(s)Leukodystrophy (disorder)
synonyms
  • Leukodystrophy
  • Leucodystrophy
attributes - group1
Associated morphologyMyelin sheath alteration   125495003
Finding siteMyelinated nerve fiber structure   54115001
attributes - group2
Finding siteWhite matter structure of brain and spinal cord   389080008
Associated morphologyDystrophy   4720007
parents
children
  • 4H leukodystrophy   1208933000
  • Adrenoleukodystrophy   65389002
  • Adult onset autosomal dominant leukodystrophy   448054001
  • Aicardi Goutieres syndrome   230312006
  • Alexander's disease   81854007
  • Alkaline ceramidase 3 deficiency   1237515001
  • C11ORF73-related autosomal recessive hypomyelinating leukodystrophy   1172595004
  • Cholestanol storage disease   63246000
  • Dalmatian leukodystrophy   54801001  removed: 2014-01-31
  • Dermatoleukodystrophy   733044009
  • Galactosylceramide beta-galactosidase deficiency   192782005
  • Hypomyelination with brain stem and spinal cord involvement and leg spasticity   777999008
  • Leucodystrophy NOS   192785007  removed: 2010-01-31
  • Leucodystrophy without a known biochemical basis   307360006  removed: 2020-01-31
  • Metachromatic leukodystrophy   396338004
  • Multiple mitochondrial dysfunctions syndrome type 4   1208621008
  • Multiple mitochondrial dysfunctions syndrome type 5   1279890001
  • Muscle eye brain disease with bilateral multicystic leukodystrophy   785298001
  • Neuroaxonal leukodystrophy   230367007
  • NKX6-2-related autosomal recessive hypomyelinating leukodystrophy   1217379007
  • Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy   1220598005
  • Pelizaeus Merzbacher like disease   717042001
  • Pelizaeus-Merzbacher disease   64855000
  • Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease   765325002
  • Phytanic acid storage disease   25362006
  • RARS-related autosomal recessive hypomyelinating leukodystrophy   1220600004
  • RAVINE syndrome   715794009
  • RNA polymerase III-related leukodystrophy   712637001
  • Spongy degeneration of central nervous system   80544005
  • TUBB4A-related leukodystrophy   769065000
  • Vanishing white matter disease   447351004
  • VPS11-related autosomal recessive hypomyelinating leukodystrophy   1187249005
  • X-linked spastic paraplegia type 2   723622007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Leukodystrophy   192781003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Neuropathy   386033004
            Leukodystrophy   192781003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Leukodystrophy   192781003

ancestors
sorted most to least specific
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