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237999008: Mitochondrial trifunctional protein deficiency (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

356715010 Mitochondrial trifunctional protein deficiency en Synonym Active Case insensitive SNOMED CT core
356716011 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency en Synonym Inactive Initial character case insensitive SNOMED CT core
356717019 Human trifunctional protein deficiency en Synonym Active Case insensitive SNOMED CT core
356718012 Trifunctional protein deficiency en Synonym Active Case insensitive SNOMED CT core
356719016 LCHAD - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency en Synonym Inactive Case sensitive SNOMED CT core
356720010 Trifunctional enzyme deficiency en Synonym Active Case insensitive SNOMED CT core
626815011 Mitochondrial trifunctional protein deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial trifunctional protein deficiency	Is a	Fatty acid oxidation defect	true	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	Disorder of fatty acid metabolism	false	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

Australian emergency department reference set

Id	Description	Lang	Type	Status	Case?	Module
356715010	Mitochondrial trifunctional protein deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
356716011	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
356717019	Human trifunctional protein deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
356718012	Trifunctional protein deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
356719016	LCHAD - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym	Inactive	Case sensitive	SNOMED CT core
356720010	Trifunctional enzyme deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
626815011	Mitochondrial trifunctional protein deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core