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\Myopathy\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\Musculoskeletal disorder\...
• \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\Mitochondrial respiratory chain complexes disorder\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\Neurological 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\Neurological disorder\Disorder of the central nervous system\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Myopathy\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\Mitochondrial respiratory chain complexes disorder\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\Mitochondrial respiratory chain complexes disorder\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, Primitive. 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	Active	Initial character case insensitive	SNOMED CT core
4694052016	Mitochondrial respiratory chain complex I 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

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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