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

\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

\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

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

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

789981000052115 brist på 3-ketoacyl-CoA-triolas sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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