SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Enzymopathy  78548001

Specific enzyme deficiency  129456006

Fumarate hydratase deficiency   237983002

SNOMED CT code


SNOMED code237983002
nameFumarate hydratase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Fumarate hydratase deficiency (disorder)
synonyms
  • Fumarase deficiency
  • Fumarate hydratase deficiency
attributes - group1
OccurrenceCongenital   255399007
parents
  • Specific enzyme deficiency   129456006
  • Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Fumarate hydratase deficiency   237983002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
            Fumarate hydratase deficiency   237983002

ancestors
sorted most to least specific
cpt crosswalks

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