Acute neuronopathic Gaucher's disease   12246008

SNOMED CT code


SNOMED code12246008
nameAcute neuronopathic Gaucher's disease
statusactive
date introduced2002-01-31
fully specified name(s)Acute neuronopathic Gaucher's disease (disorder)
synonyms
  • Glucocerebrosidase deficiency type II
  • Acute neuronopathic Gaucher disease
  • Infantile Gaucher disease
  • Cerebral acute Gaucher disease
  • Acute neuronopathic Gaucher's disease
  • Infantile Gaucher's disease
  • Gaucher's disease, type II
  • Acute cerebral Gaucher's disease
  • Glucosylceramidase deficiency, acute type
  • Infantile cerebral Gaucher's disease
attributes - group2
Clinical courseSudden onset AND/OR short duration   424124008
attributes - group3
OccurrenceCongenital   255399007
attributes - group1
Finding siteNervous system structure   25087005
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Acute disease   2704003
        Acute metabolic disorder   127339009
          Acute neuronopathic Gaucher's disease   12246008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Acute disease   2704003
        Acute nervous system disorder   127341005
          Acute neuronopathic Gaucher's disease   12246008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Acute neuronopathic Gaucher's disease   12246008

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
              Gaucher's disease   190794006
                Acute neuronopathic Gaucher's disease   12246008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Acute neuronopathic Gaucher's disease   12246008

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