724279004: Combined oxidative phosphorylation defect type 5 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 5 (disorder)
• \Metabolic disease\Mitochondrial cytopathy (disorder)\Combined oxidative phosphorylation defect type 5 (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
3433539014	Combined oxidative phosphorylation defect type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433540011	Combined oxidative phosphorylation defect type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433541010	COXPD5 - combined oxidative phosphorylation defect 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433542015	Hypotonia with lactic acidemia and hyperammonemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433543013	Hypotonia with lactic acidaemia and hyperammonaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403298017	This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403299013	This syndrome is characterised by severe hypotonia, lactic acidaemia and congenital hyperammonaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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