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

SNOMED CT code


SNOMED code190794006
nameGaucher's disease
statusactive
date introduced2002-01-31
fully specified name(s)Glucosylceramide beta-glucosidase deficiency (disorder)
synonyms
  • Gaucher's disease
  • Gaucher disease
  • Cerebroside lipidosis syndrome
  • Glucocerebrosidase deficiency
  • Kerasin histiocytosis
  • Gaucher splenomegaly
  • Kerasin lipoidosis
  • Glucocerebrosidosis
  • Gaucher syndrome
  • Glucosylceramidase deficiency
  • Glucosylceramide beta-glucosidase deficiency
attributes - group1
OccurrenceCongenital   255399007
parentsSphingolipidosis   238028008
children
  • Acute neuronopathic Gaucher's disease   12246008
  • Atypical Gaucher disease due to saposin C deficiency   1156792000
  • Chronic non-neuropathic Gaucher's disease   62201009
  • Perinatal lethal Gaucher disease   870313002
  • Subacute neuronopathic Gaucher's disease   5963005
hierarchies
a selection of possible paths
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

ancestors
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