Autosomal recessive cerebellar ataxia with late-onset spasticity   763348005

SNOMED CT code


SNOMED code763348005
nameAutosomal recessive cerebellar ataxia with late-onset spasticity
statusactive
date introduced2018-07-31
fully specified name(s)Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)
synonyms
  • Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency
  • Autosomal recessive cerebellar ataxia with late-onset spasticity
attributes - group2
OccurrenceCongenital   255399007
attributes - group1
Finding siteCerebellar structure   113305005
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Autosomal recessive cerebellar ataxia with late-onset spasticity   763348005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid storage and metabolism   238017009
            Sphingolipidosis   238028008
              Autosomal recessive cerebellar ataxia with late-onset spasticity   763348005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Hereditary ataxia   763597000
          Autosomal recessive cerebellar ataxia with late-onset spasticity   763348005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of coordination   298314008
      Ataxia   20262006
        Cerebellar ataxia   85102008
          Autosomal recessive cerebellar ataxia with late-onset spasticity   763348005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive cerebellar ataxia with late-onset spasticity   763348005

ancestors
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