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

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism

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

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	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Disorder of fatty acid metabolism	Is a	Disorder of organic acid metabolism (disorder)	true	Inferred relationship	Some
Disorder of fatty acid metabolism	Occurrence	Congenital	true	Inferred relationship	Some	1
Disorder of fatty acid metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of fatty acid metabolism	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	Inferred relationship	Some
Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
Carnitine acylcarnitine translocase deficiency	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
Succinyl-coenzyme A acetoacetate transferase deficiency (disorder)	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
Deficiency of butyryl-CoA dehydrogenase	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
Deficiency of acyl-CoA dehydrogenase	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder.	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
Malonyl-CoA decarboxylase deficiency	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
Renal carnitine transport defect	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
Glutaric aciduria, type 2	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
HSMN IV	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
Acyl-CoA dehydrogenase deficiency	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
Muscle carnitine deficiency	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
Carnitine palmitoyltransferase deficiency	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
Deficiency of malonyl-coenzyme A decarboxylase (disorder)	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
Carnitine acetyltransferase deficiency	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
Iatrogenic carnitine deficiency (disorder)	Is a	False	Disorder of fatty acid metabolism	Inferred relationship	Some
Long-chain fatty acid transport deficiency (disorder)	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
Deficiency of carnitine acetyltransferase	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
Deficiency of 2,4-dienoyl-CoA reductase	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
Carnitine deficiency due to inborn error of metabolism (disorder)	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
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	Inferred relationship	Some
A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy or early childhood with hypoketotic hypoglycemia, 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	Inferred relationship	Some
Fatty acid oxidation defect (disorder)	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some
Combined malonic and methylmalonic aciduria	Is a	True	Disorder of fatty acid metabolism	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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
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