Porphobilinogen synthase deficiency   64081000

SNOMED CT code


SNOMED code64081000
namePorphobilinogen synthase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Porphobilinogen synthase deficiency (disorder)
synonyms
  • Porphobilinogen synthase deficiency
  • ALA dehydratase deficiency porphyria
  • ALAD deficiency
  • ALADH deficiency
  • Hereditary delta-aminolevulinic aciduria
  • Acute hepatic porphyria
  • Delta-aminolevulinate dehydrase deficiency
  • Delta-aminolaevulinate dehydrase deficiency
  • Porphyria due to delta-aminolevulinate dehydratase deficiency
  • Porphyria of Doss
attributes - group1
OccurrenceCongenital   255399007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Porphobilinogen synthase deficiency   64081000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital porphyria   190913009
          Porphobilinogen synthase deficiency   64081000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Porphobilinogen synthase deficiency   64081000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Porphobilinogen synthase deficiency   64081000

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