720951008: Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder)
• \Metabolic disease\Mitochondrial cytopathy (disorder)\Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322615013	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322616014	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322617017	Combined oxidative phosphorylation deficiency type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402523011	Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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

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