1196948002: Mitochondrial respiratory chain complex I assembly gene defect (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Mitochondrial respiratory chain complex I assembly gene defect
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \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\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\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\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon) (disorder)\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\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\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I 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
4694051011	Mitochondrial respiratory chain complex I assembly gene defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4694052016	Mitochondrial respiratory chain complex I assembly gene defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5599971000052119	gendefekt i enzymkomplex I i mitokondriella respirationskedjan	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

This concept is not in any reference sets

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