725046003: Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Acyl-CoA dehydrogenase 9 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acyl-CoA dehydrogenase 9 deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Acyl-CoA dehydrogenase 9 deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Acyl-CoA dehydrogenase 9 deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3437430010	Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3437431014	Acyl-CoA dehydrogenase 9 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437432019	ACAD9 (acyl-CoA dehydrogenase 9) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3437433012	Deficiency of acyl-coenzyme A dehydrogenase 9	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437435017	Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437434018	A rare disorder leading to a deficiency of complex I of the respiratory chain with characteristics of neurological dysfunction, hepatic failure and cardiomyopathy. Caused by a mutation in the ACAD9 gene (3q21.3) that encodes the protein ACAD9. This protein has only relatively recently been described but is quite widely expressed in tissues and has activity as an acyl-CoA dehydrogenase with overlapping substrate specificity with very long-chain acyl-CoA dehydrogenase (VLCAD). It also acts an assembly factor for complex I of the respiratory chain and therefore has a vital role in the production of a functioning mitochondrial respiratory chain. The mode of inheritance is autosomal recessive.	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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