Alpha-methylacyl-CoA racemase deficiency disorder   700463002

SNOMED CT code


SNOMED code700463002
nameAlpha-methylacyl-CoA racemase deficiency disorder
statusactive
date introduced2014-07-31
fully specified name(s)Alpha-methylacyl-CoA racemase deficiency disorder (disorder)
synonyms
  • Alpha-methylacyl-CoA racemase deficiency disorder
  • AMACR deficiency
  • Congenital bile acid synthesis defect type 4
attributes - group1
OccurrenceCongenital   255399007
attributes - group2
Finding siteLiver structure   10200004
parents
  • Synthetic defect of bile acids   235915002
  • General loss of peroxisomal function   238060000
  • 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
            Alpha-methylacyl-CoA racemase deficiency disorder   700463002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of peroxisomal function   238059005
            General loss of peroxisomal function   238060000
              Alpha-methylacyl-CoA racemase deficiency disorder   700463002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Alpha-methylacyl-CoA racemase deficiency disorder   700463002

ancestors
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