726021008: Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect\Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3447535016	Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3447536015	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3447537012	LCHADD - long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3447538019	Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3447539010	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.	en	Definition	Active	Case sensitive	SNOMED CT core
3447540012	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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