1365878007: Mitochondrial complex I deficiency nuclear type 10 (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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Mitochondrial respiratory chain complex I assembly gene defect\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Disease\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\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Disease\Fetal and/or neonatal disorder\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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of NADH dehydrogenase (ubiquinon)\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect\Mitochondrial complex I deficiency nuclear type 10 (disorder)
• \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\Mitochondrial complex I deficiency nuclear type 10 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5455581014	Mitochondrial complex I deficiency nuclear type 10 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5455582019	Mitochondrial complex I deficiency nuclear type 10	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5455583012	MC1DN10 - mitochondrial complex 1 deficiency nuclear type 10	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5455584018	NDUFAF2-related mitochondrial respiratory chain complex I assembly gene defect	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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