1196871004: Mitochondrial respiratory chain complex III assembly gene defect (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Hereditary 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\Ubiquinone dehydrogenase deficiency (disorder)\Mitochondrial respiratory chain complex III assembly gene defect
• \Fetal and/or neonatal disorder\Congenital 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\Ubiquinone dehydrogenase deficiency (disorder)\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\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Ubiquinone dehydrogenase deficiency (disorder)\Mitochondrial respiratory chain complex III assembly gene defect
• \Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Ubiquinone dehydrogenase deficiency (disorder)\Mitochondrial respiratory chain complex III assembly gene defect

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4693714016	Mitochondrial respiratory chain complex III assembly gene defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7727661000241118	défaut d'un gène d'assemblage du complexe III de la chaine respiratoire mitochondriale	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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