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

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

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3322616014	Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3322617017	Combined oxidative phosphorylation deficiency type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3322618010	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	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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