Cholestanol storage disease   63246000

SNOMED CT code


SNOMED code63246000
nameCholestanol storage disease
statusactive
date introduced2002-01-31
fully specified name(s)Cholestanol storage disease (disorder)
synonyms
  • Cholestanol storage disease
  • Cerebrotendinous xanthomatosis
  • Cerebral cholesterinosis
  • van Bogaert-Scherer-Epstein syndrome
  • CTX - Cerebrotendinous xanthomatosis
  • Cerebrotendinous cholesterinosis
  • Cholestanolosis
  • Van Bogaert-Scherer-Epstein disease
attributes - group3
Finding siteLiver structure   10200004
attributes - group1
Finding siteMyelinated nerve fiber structure   54115001
Associated morphologyMyelin sheath alteration   125495003
attributes - group2
Finding siteWhite matter structure of brain and spinal cord   389080008
Associated morphologyDystrophy   4720007
attributes - group4
OccurrenceCongenital   255399007
attributes - group5
Finding siteBody organ structure   113343008
Associated morphologyXanthomatous deposition   75594004
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Inherited metabolic disorder of nervous system   128190004
  • Leukodystrophy   192781003
  • Synthetic defect of bile acids   235915002
  • Disorder of cholesterol catabolism   238032002
  • Hereditary disorder of the integument   363185004
  • Xanthomatosis   63103006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
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
            Cholestanol storage disease   63246000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Cholestanol storage disease   63246000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Leukodystrophy   192781003
        Cholestanol storage disease   63246000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic and genetic disorder affecting the liver   235903001
          Synthetic defect of bile acids   235915002
            Cholestanol storage disease   63246000

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
            Disorder of cholesterol catabolism   238032002
              Cholestanol storage disease   63246000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Cholestanol storage disease   63246000

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
            Xanthomatosis   63103006
              Cholestanol storage disease   63246000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Cholestanol storage disease   63246000

ancestors
sorted most to least specific
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