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

• SNOMED CT Concept\Clinical 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\Mitochondrial respiratory chain complex I assembly gene defect
• \Muscle finding\Disorder of skeletal AND/OR smooth 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\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 of the central nervous system\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 skeletal AND/OR smooth 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\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)\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\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\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Congenital 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\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. Date: 28-Feb 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4694051011	Mitochondrial respiratory chain complex I assembly gene defect	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4694052016	Mitochondrial respiratory chain complex I assembly gene defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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