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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\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 (disorder)\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\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 (disorder)\Mitochondrial trifunctional protein deficiency\3-Ketoacyl-CoA triolase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

450311014 3-Ketoacyl-CoA triolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
703613016 3-Ketoacyl-CoA triolase deficiency (disorder) en Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
2971828011 3-Ketoacyl-coenzyme A triolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2972006012 3-Ketoacyl-coenzyme A triolase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-Ketoacyl-CoA triolase deficiency	Is a	Mitochondrial trifunctional protein deficiency	true	Inferred relationship	Some
3-Ketoacyl-CoA triolase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
3-Ketoacyl-CoA triolase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets