787412002: Short chain acyl-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\Acyl-CoA dehydrogenase deficiency\Short chain acyl-CoA dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Short chain acyl-CoA dehydrogenase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Short chain acyl-CoA dehydrogenase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Short chain acyl-CoA dehydrogenase deficiency
• \Metabolic disease\Enzymopathy\Acyl-CoA dehydrogenase deficiency\Short chain acyl-CoA dehydrogenase deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Short chain acyl-CoA dehydrogenase deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Acyl-CoA dehydrogenase deficiency\Short chain acyl-CoA dehydrogenase deficiency

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3775341010	Short chain acyl-CoA dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3775342015	Short chain acyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3775344019	Short chain acyl-coenzyme A dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3775345018	SCAD - short chain acyl-CoA dehydrogenase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3775346017	ACADS - short chain acyl-coenzyme A dehydrogenase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3775347014	A very rare inborn error of mitochondrial fatty acid oxidation with characteristics of variable manifestations ranging from asymptomatic individuals to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. In affected individuals manifestations include seizures, developmental delay (delayed sitting/walking and/or speech/social interaction), failure to grow with poor feeding and usually muscle weakness and hypotonia. Caused by mutations in the acyl-CoA dehydrogenase, C-2 to C-3 short chain ACADS gene (12q24.31) along with additional as yet unidentified precipitating factors. Inherited in an autosomal recessive manner.	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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