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

Congenital bile acid synthesis defect type 3   719454003

SNOMED CT code


SNOMED code719454003
nameCongenital bile acid synthesis defect type 3
statusactive
date introduced2017-01-31
fully specified name(s)Congenital bile acid synthesis defect type 3 (disorder)
synonyms
  • Congenital bile acid synthesis defect type 3
  • Oxysterol 7-alpha hydroxylase deficiency
attributes - group2
OccurrenceCongenital   255399007
attributes - group1
Finding siteLiver structure   10200004
parents
  • Synthetic defect of bile acids   235915002
  • Autosomal recessive hereditary disorder   85995004
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
            Congenital bile acid synthesis defect type 3   719454003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Congenital bile acid synthesis defect type 3   719454003

ancestors
sorted most to least specific
cpt crosswalks

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