SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Enzymopathy  78548001

Specific enzyme deficiency  129456006

Deficiency of fumarylacetoacetase   124536006

SNOMED CT code


SNOMED code124536006
nameDeficiency of fumarylacetoacetase
statusactive
date introduced2002-01-31
fully specified name(s)Deficiency of fumarylacetoacetase (disorder)
synonyms
  • Deficiency of beta-diketonase
  • Deficiency of fumarylacetoacetase
parentsSpecific enzyme deficiency   129456006
children
  • Fumarylacetoacetase deficiency, acute type   27373000
  • Fumarylacetoacetase deficiency, chronic type   52452006
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

ancestors
sorted most to least specific
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