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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
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
66517017 Disorder of fatty acid metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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
4520641000241110 trouble du métabolisme des acides gras fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4520641000241110 trouble du métabolisme des acides gras fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

39 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 true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of fatty acid metabolism (disorder) Is a Disorder of organic acid metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of fatty acid metabolism (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Disorder of fatty acid metabolism (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of fatty acid metabolism (disorder) Is a Disorder of lipoprotein AND/OR lipid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Mitochondrial trifunctional protein deficiency Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carnitine acylcarnitine translocase deficiency Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Succinyl-CoA acetoacetate transferase deficiency Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of butyryl-CoA dehydrogenase (disorder) Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acyl-CoA dehydrogenase Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Malonic aciduria Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Malonyl-CoA decarboxylase deficiency Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal carnitine transport defect Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glutaric aciduria, type 2 Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder) Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acyl-CoA dehydrogenase deficiency Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Muscle carnitine deficiency Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carnitine palmitoyltransferase deficiency Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of malonyl-coenzyme A decarboxylase (disorder) Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carnitine acetyltransferase deficiency Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Iatrogenic carnitine deficiency Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Long-chain fatty acid transport deficiency (disorder) Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of carnitine acetyltransferase Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of 2,4-dienoyl-CoA reductase Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carnitine deficiency due to inborn error of metabolism (disorder) Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute episodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A mitochondrial disorder of long chain fatty acid oxidation characterised in most patients by onset in infancy or early childhood with hypoketotic hypoglycaemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. Caused by the isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase, an enzyme of the mitochondrial trifunctional protein complex (TFP). TFP is a heterooctamer of 4 alpha and 4 beta subunits. The disease is due to mutations in the HADHA gene (2p23) that encodes for the alpha subunit of TFP. Mitochondrial trifunctional protein deficiency is clinically indistinguishable from this disease. Is a False Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fatty acid oxidation defect (disorder) Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined malonic and methylmalonic aciduria Is a True Disorder of fatty acid metabolism (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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