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39929009: Disorder of fatty acid metabolism (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)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)

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
Disorder of fatty acid metabolism (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Disorder of fatty acid metabolism (disorder)	Is a	Disorder of organic acid metabolism	true	Inferred relationship	Some
Disorder of fatty acid metabolism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Disorder of fatty acid metabolism (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of fatty acid metabolism (disorder)	Is a	Disorder of lipoprotein AND/OR lipid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mitochondrial trifunctional protein deficiency	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Carnitine acylcarnitine translocase deficiency	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Succinyl-CoA acetoacetate transferase deficiency	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Deficiency of butyryl-CoA dehydrogenase	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Deficiency of acyl-CoA dehydrogenase	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Malonic aciduria	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Malonyl-CoA decarboxylase deficiency	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Renal carnitine transport defect	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Glutaric aciduria, type 2	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
HSMN IV	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Acyl-CoA dehydrogenase deficiency	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Muscle carnitine deficiency	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Carnitine palmitoyltransferase deficiency	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Deficiency of malonyl-CoA decarboxylase	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Carnitine acetyltransferase deficiency	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Iatrogenic carnitine deficiency (disorder)	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Long-chain fatty acid transport deficiency (disorder)	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Deficiency of carnitine acetyltransferase (disorder)	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Deficiency of 2,4-dienoyl-CoA reductase	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Carnitine deficiency due to inborn error of metabolism (disorder)	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	False	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Fatty acid oxidation defect (disorder)	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some
Combined malonic and methylmalonic aciduria	Is a	True	Disorder of fatty acid metabolism (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
66517017	Disorder of fatty acid metabolism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492317010	Disorders of fatty-acid metabolism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492318017	Disorder of fat oxidation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
776475011	Disorder of fatty acid metabolism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5694011000172112	trouble du métabolisme des acides gras	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4219571000172118	stoornis van vetzuurmetabolisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)