237988006: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (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

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\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 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 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\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 skeletal AND/OR smooth 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\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)\Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
\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
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

356691011 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

356692016 Complex I deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

356693014 NADH - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

626802019 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

4578742010 Mitochondrial complex I deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

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	Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	3
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Mitochondrial myopathy	true	Inferred relationship	Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon)	true	Inferred relationship	Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier

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	Existential restriction modifier
Mitochondrial respiratory chain complex I assembly gene defect	Is a	True	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Inferred relationship	Existential restriction modifier

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	Active	Only initial character case insensitive	SNOMED CT core module
356692016	Complex I deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
356693014	NADH - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
626802019	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4578742010	Mitochondrial complex I deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module