1196871004: Mitochondrial respiratory chain complex III assembly 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\Ubiquinone dehydrogenase deficiency\Mitochondrial respiratory chain complex III assembly 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\Ubiquinone dehydrogenase deficiency\Mitochondrial respiratory chain complex III assembly gene defect
• \Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Ubiquinone dehydrogenase deficiency\Mitochondrial respiratory chain complex III assembly 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\Ubiquinone dehydrogenase deficiency\Mitochondrial respiratory chain complex III assembly gene defect

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4693713010	Mitochondrial respiratory chain complex III assembly gene defect	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4693714016	Mitochondrial respiratory chain complex III assembly gene defect (disorder)	en	Fully specified name	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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