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Terminology chevron_right Concepts chevron_right 237988006

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Component

237988006

The component that hold information about this concept.

Fully Specified Name (FSN)

Nicotinamide adenine dinucleotide coenzyme q reductase deficiency (disorder)

Shortest Term

Complex i deficiency

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Nicotinamide adenine dinucleotide coenzyme q reductase deficiency (disorder)

SCTID: 237988006, Primitive, Active

237988006|Nicotinamide adenine dinucleotide coenzyme q reductase deficiency (disorder)|

en Mitochondrial complex i deficiency
en Complex i deficiency
en Nadh - nicotinamide adenine dinucleotide coenzyme q reductase deficiency
en Nicotinamide adenine dinucleotide coenzyme q reductase deficiency
en Nicotinamide adenine dinucleotide coenzyme q reductase deficiency (disorder)

Expression

237988006 |Nicotinamide adenine dinucleotide coenzyme q reductase deficiency (disorder)|
 <<< 128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
124189004 |Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon) (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
237987001 |Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)| + 
16851005 |Mitochondrial myopathy (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4578742010 - Mitochondrial complex I deficiency (en) View
4578742010	en	Synonym (core metadata concept)	Mitochondrial complex I deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
356692016 - Complex I deficiency (en) View
356692016	en	Synonym (core metadata concept)	Complex I deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
356693014 - NADH - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (en) View
356693014	en	Synonym (core metadata concept)	NADH - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
356691011 - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (en) View
356691011	en	Synonym (core metadata concept)	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
626802019 - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder) (en) View
626802019	en	Fully specified name (core metadata concept)	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13827581022) - 237988006 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15120456025) - 237988006 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13827580023) - 237988006 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13827582026) - 237988006 -> 16851005 (116680003) View
116680003 \|Is a (attribute)\|	16851005 \|Mitochondrial myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13827583020) - 237988006 -> 124189004 (116680003) View
116680003 \|Is a (attribute)\|	124189004 \|Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon) (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13827584025) - 237988006 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13827585029) - 237988006 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526992024) - 237988006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526993025) - 237988006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53624025) - 237988006 -> 237987001 (116680003) View
116680003 \|Is a (attribute)\|	237987001 \|Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
16851005 View
16851005	Mitochondrial myopathy (disorder)	Ragged red myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124189004 View
124189004	Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon) (disorder)	Deficiency of ubiquinone reductase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237987001 View
237987001	Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)	Deficiency in enzyme complexes of mitochondrial respiratory chain	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1196872006 View
1196872006	Mitochondrial respiratory chain complex i structural subunit gene defect (disorder)	Mitochondrial respiratory chain complex i structural subunit gene defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1196948002 View
1196948002	Mitochondrial respiratory chain complex i assembly gene defect (disorder)	Mitochondrial respiratory chain complex i assembly gene defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (2102c9ba-d75f-543d-a8fa-6cf1819832d2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.3	TRUE	ALWAYS G71.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|
ExtendedMap object (65ee0f25-d2e8-51d1-88fe-238fdf3cf825) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	TRUE	ALWAYS E88.8	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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