307127004: Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency

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
450307015	Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
450308013	LCHAD - Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
703610018	Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2449111000052112	isolerad brist på långkedjigt hydroxiacyl-CoA-dehydrogenas	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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