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

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)
• \trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)
• \Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437431014	Acyl-CoA dehydrogenase 9 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437432019	ACAD9 (acyl-CoA dehydrogenase 9) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437433012	Deficiency of acyl-coenzyme A dehydrogenase 9	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437435017	Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start