SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Disorder of organic acid metabolism  116021002

Disorder of fatty acid metabolism  39929009

Fatty acid oxidation defect  1156591005

Mitochondrial trifunctional protein deficiency   237999008

SNOMED CT code


SNOMED code237999008
nameMitochondrial trifunctional protein deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Mitochondrial trifunctional protein deficiency (disorder)
synonyms
  • Mitochondrial trifunctional protein deficiency
  • Human trifunctional protein deficiency
  • Trifunctional protein deficiency
  • Trifunctional enzyme deficiency
attributes - group1
OccurrenceCongenital   255399007
parentsFatty acid oxidation defect   1156591005
children
  • 3-Ketoacyl-CoA triolase deficiency   307130006
  • Combined long chain hydroxyacyl-CoA dehydrogenase deficiency   307128009
  • Deficiency of enoyl-CoA hydratase   124621004
  • Enoyl-CoA hydratase deficiency   307129001  removed: 2004-01-31
  • Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency   307127004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of fatty acid metabolism   39929009
            Fatty acid oxidation defect   1156591005
              Mitochondrial trifunctional protein deficiency   237999008

ancestors
sorted most to least specific
cpt crosswalks

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