787412002: Short chain acyl-coenzyme A 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)\Acyl-CoA dehydrogenase deficiency\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.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\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.
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\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.
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\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.
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\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.
• \Metabolic disease\Enzymopathy\Acyl-CoA dehydrogenase deficiency\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.
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Acyl-CoA dehydrogenase deficiency\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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3775341010	Short chain acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3775342015	Short chain acyl-coenzyme A dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3775344019	Short chain acyl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3775345018	SCAD - short chain acyl-CoA dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3775346017	ACADS - short chain acyl-coenzyme A dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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