237999008: Mitochondrial trifunctional protein 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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein 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

356715010 Mitochondrial trifunctional protein deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356717019 Human trifunctional protein deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356718012 Trifunctional protein deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356720010 Trifunctional enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626815011 Mitochondrial trifunctional protein deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

789971000052117 mitokondriell trifunktionell proteinbrist sv Synonym (core metadata concept) Active Entire term 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
Mitochondrial trifunctional protein deficiency	Is a	Disorder of fatty acid metabolism	false	Inferred relationship	Some
Mitochondrial trifunctional protein deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Mitochondrial trifunctional protein deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Mitochondrial trifunctional protein deficiency	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	Is a	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some
Combined long chain hydroxyacyl-CoA dehydrogenase deficiency	Is a	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some
Enoyl-CoA hydratase deficiency	Is a	False	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some
3-Ketoacyl-CoA triolase deficiency	Is a	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some
Deficiency of enoyl-CoA hydratase	Is a	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some

Reference Sets