Fumarylacetoacetase deficiency, chronic type   52452006

SNOMED CT code


SNOMED code52452006
nameFumarylacetoacetase deficiency, chronic type
statusactive
date introduced2002-01-31
fully specified name(s)Fumarylacetoacetase deficiency, chronic type (disorder)
synonyms
  • Tyrosinaemia with hepatorenal dysfunction
  • Fumarylacetoacetase deficiency, chronic type
  • Chronic tyrosinosis
  • Tyrosinemia with hepatorenal dysfunction
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
            Deficiency of fumarylacetoacetase   124536006
              Fumarylacetoacetase deficiency, chronic type   52452006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Hereditary metabolic disease   1821000146108
          Hereditary hypertyrosinemia   271847005
            Fumarylacetoacetase deficiency, chronic type   52452006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of amino acid metabolism   44779003
            Disorder of amino acid and organic acid metabolism   237911005
              Disturbance of tyrosine metabolism   37200009
                Tyrosinosis   57414003
                  Fumarylacetoacetase deficiency, chronic type   52452006

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