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Terminology chevron_right Concepts chevron_right 259357003

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Component

259357003

The component that hold information about this concept.

Fully Specified Name (FSN)

Inborn errors of metabolism marker (substance)

Shortest Term

Inborn errors of metabolism marker

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

Inborn errors of metabolism marker (substance)

SCTID: 259357003, Primitive, Active

259357003|Inborn errors of metabolism marker (substance)|

en Inborn errors of metabolism marker
en Inborn errors of metabolism marker (substance)

Expression

259357003 |Inborn errors of metabolism marker (substance)|
 <<< 91720002 |Body substance (substance)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
386249013 - Inborn errors of metabolism marker (en) View
386249013	en	Synonym (core metadata concept)	Inborn errors of metabolism marker	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
650905012 - Inborn errors of metabolism marker (substance) (en) View
650905012	en	Fully specified name (core metadata concept)	Inborn errors of metabolism marker (substance)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9333517028) - 259357003 -> 767280006 (116680003) View
116680003 \|Is a (attribute)\|	767280006 \|Metabolic marker (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15223530021) - 259357003 -> 91720002 (116680003) View
116680003 \|Is a (attribute)\|	91720002 \|Body substance (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (80773023) - 259357003 -> 301893002 (116680003) View
116680003 \|Is a (attribute)\|	301893002 \|Metabolites and metabolic markers (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
91720002 View
91720002	Body substance (substance)	Body substance	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
88689003 View
88689003	Long-chain-alcohol dehydrogenase (substance)	Long-chain-alcohol dehydrogenase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259358008 View
259358008	Amino acid metabolism disorder marker (substance)	Amino acid metabolism disorder marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259381005 View
259381005	Carbohydrate metabolism disorder marker (substance)	Glycogenoses marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259398005 View
259398005	Glycoprotein and mucolipid storage disease marker (substance)	Glycoprotein and mucolipid storage disease marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259413003 View
259413003	Lactic acidemia and mitochondrial disorder marker (substance)	Lactic acidemia and mitochondrial disorder marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259417002 View
259417002	Lipoprotein and neutral lipid disorder marker (substance)	Lipoprotein and neutral lipid disorder marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259428003 View
259428003	Lysosomal storage disease marker (substance)	Lipidoses marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259449002 View
259449002	Glycosaminoglycanoses marker (substance)	Glycosaminoglycanoses marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259456008 View
259456008	Organic acid metabolism disorder marker (substance)	Organic acid metabolism disorder marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259485002 View
259485002	Peroxisomal disorder marker (substance)	Peroxisomal disorder marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259495009 View
259495009	Porphyrin and heme metabolism disorder marker (substance)	Porphyrin and hem metabolism disorder marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259508000 View
259508000	Propionate and methylmalonate metabolism disorder marker (substance)	Propionate and methylmalonate metabolism disorder marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259515008 View
259515008	Purine and pyrimidine metabolism disorder marker (substance)	Purine and pyrimidine metabolism disorder marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259532007 View
259532007	Steroid metabolism disorder marker (substance)	Steroid metabolism disorder marker	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259538006 View
259538006	Mitochondrial adenosine triphosphate synthase subunit c (substance)	Mitochondrial adenosine triphosphate synthase subunit c	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
259540001 View
259540001	Phosphoethanolamine pyrophosphate (substance)	Phosphoethanolamine pyrophosphate	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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Terminology chevron_right Concepts chevron_right 259357003

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