307130006: 3-Ketoacyl-coenzyme A triolase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2971828011	3-Ketoacyl-coenzyme A triolase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
2972006012	3-Ketoacyl-coenzyme A triolase deficiency (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
450311014	3-Ketoacyl-CoA triolase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
703613016	3-Ketoacyl-CoA triolase deficiency (disorder)	en	Fully specified name	Inactive	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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