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 (disorder)\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

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial trifunctional protein deficiency	Is a	Disorder of fatty acid metabolism (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial trifunctional protein deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial trifunctional protein deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mitochondrial trifunctional protein deficiency	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	Is a	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Enoyl-CoA hydratase deficiency	Is a	False	Mitochondrial trifunctional protein deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Ketoacyl-coenzyme A triolase deficiency (disorder)	Is a	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of enoyl-CoA hydratase	Is a	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

GB English

US English

Back to Start

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
356715010	Mitochondrial trifunctional protein deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356715010	Mitochondrial trifunctional protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356716011	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356717019	Human trifunctional protein deficiency	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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
356719016	LCHAD - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356720010	Trifunctional enzyme deficiency	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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
3420161001000115	Defekt des mitochondrialen trifunktionalen Proteins	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
972991000172117	déficit en protéine trifonctionnelle mitochondriale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1000361000172113	déficit en TFP (trifunctional protein)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
972991000172117	déficit en protéine trifonctionnelle mitochondriale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1000361000172113	déficit en TFP (trifunctional protein)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420161001000115	Defekt des mitochondrialen trifunktionalen Proteins	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module