Marinesco-Sjögren syndrome   80734006

SNOMED CT code


SNOMED code80734006
nameMarinesco-Sjögren syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Marinesco-Sjögren syndrome (disorder)
synonyms
  • Marinesco-Sjogren syndrome
  • Oligophrenic cerebellolenticular degeneration
  • Marinesco-Sjögren syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteLens clear   78076003
Associated morphologyOpacity   128305008
OccurrenceCongenital   255399007
attributes - group2
Finding siteCerebellar structure   113305005
parents
  • Early onset cerebellar ataxia   230227009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
  • Hereditary ataxia   763597000
  • Congenital cataract   79410001
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Early onset cerebellar ataxia   230227009
            Marinesco-Sjögren syndrome   80734006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Marinesco-Sjögren syndrome   80734006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Marinesco-Sjögren syndrome   80734006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
                Marinesco-Sjögren syndrome   80734006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Marinesco-Sjögren syndrome   80734006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Marinesco-Sjögren syndrome   80734006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Marinesco-Sjögren syndrome   80734006

ancestors
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