Loss of single peroxisomal function   238066006

SNOMED CT code


SNOMED code238066006
nameLoss of single peroxisomal function
statusactive
date introduced2002-01-31
fully specified name(s)Loss of single peroxisomal function (disorder)
synonymsLoss of single peroxisomal function
attributes - group1
OccurrenceCongenital   255399007
parentsDisorder of peroxisomal function   238059005
children
  • Acatalasemia   267454002
  • Acyl-CoA oxidase deficiency   238069004
  • Adrenoleukodystrophy   65389002
  • Bifunctional peroxisomal enzyme deficiency   238068007
  • Contiguous ABCD1 DXS1357E deletion syndrome   773415005
  • Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia   238071004
  • Fatty acyl-CoA reductase 1 deficiency   1237619001
  • Glutaryl-CoA oxidase deficiency   238070003
  • Isolated alkyldihydroxyacetone phosphate synthase deficiency   238073001
  • Isolated dihydroxyacetone phosphate acyltransferase deficiency   238072006
  • Leukoencephalopathy, dystonia, motor neuropathy syndrome   733452000
  • Peroxisomal thiolase deficiency   238067002
  • Primary hyperoxaluria, type I   65520001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of peroxisomal function   238059005
            Loss of single peroxisomal function   238066006

ancestors
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