237999008: Mitochondrial trifunctional protein deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\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

\trouble métabolique\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency
\trouble métabolique\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency

\Congenital disease\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

1000361000172113 déficit en TFP (trifunctional protein) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

549541000241111 déficit en protéine trifonctionnelle mitochondriale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

972991000172117 déficit en protéine trifonctionnelle mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial trifunctional protein deficiency	est un(e) (attribut)	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Some
Mitochondrial trifunctional protein deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Mitochondrial trifunctional protein deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mitochondrial trifunctional protein deficiency	est un(e) (attribut)	Disorder of fatty acid metabolism	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	est un(e) (attribut)	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some
Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	est un(e) (attribut)	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some
Enoyl-CoA hydratase deficiency	est un(e) (attribut)	False	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some
3-Ketoacyl-coenzyme A triolase deficiency (disorder)	est un(e) (attribut)	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some
Deficiency of enoyl-CoA hydratase	est un(e) (attribut)	True	Mitochondrial trifunctional protein deficiency	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

Description inactivation indicator reference set