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39929009: 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:

Id Description Lang Type Status Case? Module Reference Sets
66517017 Disorder of fatty acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Danish translated concepts reference set (foundation metadata concept)
492317010 Disorders of fatty-acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
492318017 Disorder of fat oxidation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
776475011 Disorder of fatty acid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1995511000005116 fedtsyrestofskifteforstyrrelse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

36 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of fatty acid metabolism (disorder) Is a Inborn error of metabolism (disorder) 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 True 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 (disorder) Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Some
Deficiency of malonyl-CoA decarboxylase Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Some
carnitinacetyltransferasemangel 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

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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