718124006: Fatal infantile cytochrome C oxidase deficiency (disorder)

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

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3311236016	Fatal infantile cytochrome C oxidase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3311237013	A very rare mitochondrial disease with clinical characteristic of cardioencephalomyopathy resulting in death in infancy.	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

Description inactivation indicator reference set

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