718124006: Fatal infantile cytochrome C oxidase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)
• \Metabolic disease\Mitochondrial cytopathy (disorder)\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)
• \Metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)
• \Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)
• \Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3311235017	Fatal infantile cytochrome C oxidase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311236016	Fatal infantile cytochrome C oxidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311237013	A very rare mitochondrial disease with clinical characteristic of cardioencephalomyopathy resulting in death in infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3871351000052113	dödlig infantil cytokrom C-oxidasbrist	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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