Synthetic defect of bile acids   235915002

SNOMED CT code


SNOMED code235915002
nameSynthetic defect of bile acids
statusactive
date introduced2002-01-31
fully specified name(s)Synthetic defect of bile acids (disorder)
synonyms
  • BASD - Bile acid synthetic defect
  • Bile acid synthetic defect
  • Bile acid synthesis disorder
  • Synthetic defect of bile acids
  • Inborn error of bile acid synthesis
  • Disorder of bile acid synthesis
attributes - group1
OccurrenceCongenital   255399007
attributes - group2
Finding siteLiver structure   10200004
parents
  • Metabolic and genetic disorder affecting the liver   235903001
  • Disorder of lipid metabolism   267431006
  • Digestive system hereditary disorder   363080007
  • Inborn error of metabolism   86095007
children
  • 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency   238033007
  • Alpha-methylacyl-CoA racemase deficiency disorder   700463002
  • Bile acid CoA ligase deficiency and defective amidation   717047007
  • Cholestanol storage disease   63246000
  • Congenital bile acid synthesis defect type 3   719454003
  • Delta-4-3-oxosteroid-5-beta-reductase deficiency   238035000
  • Familial hypercholanemia   723360007
  • Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency   773726000
hierarchies
a selection of possible paths
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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid metabolism   267431006
            Synthetic defect of bile acids   235915002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Synthetic defect of bile acids   235915002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Synthetic defect of bile acids   235915002

ancestors
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