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

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Mitochondrial respiratory chain complex I assembly gene defect
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\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\Genetic disease\maladie héréditaire\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\maladie héréditaire\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\affection d'un système corporel\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\affection d'un système corporel\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\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\trouble métabolique\Mitochondrial cytopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex I assembly gene defect
• \Disease\trouble métabolique\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\trouble métabolique\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\trouble métabolique\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\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of NADH 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\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\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

Expanded Value Set

This concept is not in any reference sets

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