237988006: ademhalingsketen-complex-1-deficiëntie (aandoening)

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

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency

\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
\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
\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\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
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\Disease\Disorder of foetus and/or newborn\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
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\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
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\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
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\Disease\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon) (disorder)\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Deficiency in enzyme complexes of mitochondrial respiratory chain	true	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Mitochondrial myopathy	true	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon) (disorder)	true	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mitochondrial respiratory chain complex I structural subunit gene defect	Is a	True	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Inferred relationship	Some
Mitochondrial respiratory chain complex I assembly gene defect	Is a	True	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356691011	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356692016	Complex I deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356693014	NADH - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626802019	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4578742010	Mitochondrial complex I deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
374701000146119	ademhalingsketen-complex-1-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
374711000146117	ademhalingsketen-complex-1-deficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10220141000146111	complex-I-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10220151000146114	Erfelijke aangeboren aandoening die veelal gepaard gaat met melkzuuracidose (verzuring) kort na de geboorte, waardoor er sprake kan zijn van spierzwakte, een vergroot waterhoofd en/of hartafwijkingen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)