Infantile cerebellar and retinal degeneration   782822006

SNOMED CT code


SNOMED code782822006
nameInfantile cerebellar and retinal degeneration
statusactive
date introduced2019-07-31
fully specified name(s)Infantile cerebellar and retinal degeneration (disorder)
synonymsInfantile cerebellar and retinal degeneration
attributes - group1
OccurrenceInfancy   3658006
Finding siteCerebellar structure   113305005
Associated morphologyDegenerative abnormality   107669003
attributes - group2
OccurrenceInfancy   3658006
Finding siteRetinal structure   5665001
Associated morphologyDegenerative abnormality   107669003
attributes - group3
OccurrenceInfancy   3658006
Associated morphologyPrimary atrophy   68616007
Finding siteOptic nerve structure   18234004
parents
  • Hereditary optic atrophy   26360005
  • Hereditary cerebellar degeneration   37650008
  • Autosomal recessive hereditary disorder   85995004
  • Degeneration of retina   95695004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Inherited optic neuropathy   312942003
            Hereditary optic atrophy   26360005
              Infantile cerebellar and retinal degeneration   782822006

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
              Infantile cerebellar and retinal degeneration   782822006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Infantile cerebellar and retinal degeneration   782822006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Degeneration of retina   95695004
            Infantile cerebellar and retinal degeneration   782822006

ancestors
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