763204003: Combined oxidative phosphorylation defect type 7 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 7 (disorder)
• \Metabolic disease\Mitochondrial cytopathy (disorder)\Combined oxidative phosphorylation defect type 7 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638156019	Combined oxidative phosphorylation defect type 7 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638157011	Combined oxidative phosphorylation defect type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638159014	COXPD7 - combined oxidative phosphorylation defect type 7	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638158018	A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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