733600007: Combined oxidative phosphorylation defect type 8 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 8
• \Metabolic disease\Mitochondrial cytopathy (disorder)\Combined oxidative phosphorylation defect type 8

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
3499656015	Combined oxidative phosphorylation defect type 8 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499657012	Combined oxidative phosphorylation defect type 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499658019	COXPD8 - combined oxidative phosphorylation defect type 8	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403823011	Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403824017	Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterised by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalised muscle weakness and neurological involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499656015	Combined oxidative phosphorylation defect type 8 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499657012	Combined oxidative phosphorylation defect type 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499658019	COXPD8 - combined oxidative phosphorylation defect type 8	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500032018	A mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardiomyopathy, pulmonary hypoplasia, muscle weakness and neurological involvement. Caused by homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403823011	Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403824017	Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterised by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalised muscle weakness and neurological involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3389081001000117	Kombinierter Defekt der oxidativen Phosphorylierung Typ 8	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
976811000172116	COXPD8 - combined oxidative phosphorylation defect type 8	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
977201000172115	déficit combiné de la phosphorylation oxydative type 8	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
976811000172116	COXPD8 - combined oxidative phosphorylation defect type 8	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
977201000172115	déficit combiné de la phosphorylation oxydative type 8	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389081001000117	Kombinierter Defekt der oxidativen Phosphorylierung Typ 8	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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