1196950005: Mitochondrial respiratory chain complex IV structural subunit gene defect (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\Mitochondrial respiratory chain complex IV structural subunit gene defect
• \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\Mitochondrial respiratory chain complex IV structural subunit gene defect
• \Metabolic disease\Mitochondrial cytopathy\Cytochrome-c oxidase deficiency\Mitochondrial respiratory chain complex IV structural subunit gene defect
• \Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Mitochondrial respiratory chain complex IV structural subunit gene defect
• \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\Mitochondrial respiratory chain complex IV structural subunit gene defect

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4694057010	Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4694058017	Mitochondrial respiratory chain complex IV structural subunit gene defect	en	Synonym	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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