307128009: Combined long chain hydroxyacyl-coenzyme A dehydrogenase 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\Combined long chain hydroxyacyl-CoA dehydrogenase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Combined long chain hydroxyacyl-CoA dehydrogenase 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\Combined long chain hydroxyacyl-CoA dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Combined long chain hydroxyacyl-CoA dehydrogenase 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\Combined long chain hydroxyacyl-CoA dehydrogenase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Combined long chain hydroxyacyl-CoA dehydrogenase 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
Combined long chain hydroxyacyl-CoA dehydrogenase deficiency	Is a	Mitochondrial trifunctional protein deficiency	true	Inferred relationship	Some
Combined long chain hydroxyacyl-CoA dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Combined long chain hydroxyacyl-CoA dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
450309017	Combined long chain hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971572015	Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2971982011	Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
10639281000172111	déficit combiné en hydroxyacyl-coenzyme A déshydrogénase à longue chaine	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10639291000172114	déficit combiné en hydroxyacyl-CoA (coenzyme A) déshydrogénase à longue chaine	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5154201000172112	gecombineerde langeketen-hydroxyacyl-co-enzym-A-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5154211000172110	gecombineerde deficiëntie van langeketen-hydroxyacyl-co-enzym A-dehydrogenase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5154221000172117	gecombineerde 'long chain' hydroxyacyl-co-enzym-A-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)