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Terminology chevron_right Concepts chevron_right 87827003

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Component

87827003

The component that hold information about this concept.

Fully Specified Name (FSN)

Isovaleryl-coa dehydrogenase deficiency (disorder)

Shortest Term

Isovaleric acidemia

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

Isovaleryl-coa dehydrogenase deficiency (disorder)

SCTID: 87827003, Primitive, Active

87827003|Isovaleryl-coa dehydrogenase deficiency (disorder)|

en Ivd-gene related isovaleryl-coenzyme a dehydrogenase deficiency
en Isovaleric acidaemia
en Isovaleric acidemia
en Isovaleryl-coenzyme a dehydrogenase deficiency
en Isovaleryl-coenzyme a dehydrogenase deficiency (disorder)
en Isovaleric acid-coa dehydrogenase deficiency
en Isovaleric acid coa dehydrogenase deficiency
en Isovaleryl-coa dehydrogenase deficiency

Expression

87827003 |Isovaleryl-coa dehydrogenase deficiency (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
78548001 |Enzymopathy (disorder)| + 
70731005 |Acidemia (disorder)| + 
116020001 |Disorder of branched-chain amino acid metabolism (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5310035019 - IVD-gene related isovaleryl-coenzyme A dehydrogenase deficiency (en) View
5310035019	en	Synonym (core metadata concept)	IVD-gene related isovaleryl-coenzyme A dehydrogenase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
507767017 - Isovaleric acidaemia (en) View
507767017	en	Synonym (core metadata concept)	Isovaleric acidaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
145604012 - Isovaleric acidemia (en) View
145604012	en	Synonym (core metadata concept)	Isovaleric acidemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
830382013 - Isovaleryl-CoA dehydrogenase deficiency (disorder) (en) View
830382013	en	Fully specified name (core metadata concept)	Isovaleryl-CoA dehydrogenase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2971563011 - Isovaleryl-coenzyme A dehydrogenase deficiency (en) View
2971563011	en	Synonym (core metadata concept)	Isovaleryl-coenzyme A dehydrogenase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2971687019 - Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) (en) View
2971687019	en	Fully specified name (core metadata concept)	Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
1235279018 - Isovaleric acid-CoA dehydrogenase deficiency (en) View
1235279018	en	Synonym (core metadata concept)	Isovaleric acid-CoA dehydrogenase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
145605013 - Isovaleric acid CoA dehydrogenase deficiency (en) View
145605013	en	Synonym (core metadata concept)	Isovaleric acid CoA dehydrogenase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
145603018 - Isovaleryl-CoA dehydrogenase deficiency (en) View
145603018	en	Synonym (core metadata concept)	Isovaleryl-CoA dehydrogenase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (894583020) - 87827003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2698145029) - 87827003 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (894582026) - 87827003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (291468024) - 87827003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (291469027) - 87827003 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (291470026) - 87827003 -> 70731005 (116680003) View
116680003 \|Is a (attribute)\|	70731005 \|Acidemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (291471027) - 87827003 -> 116020001 (116680003) View
116680003 \|Is a (attribute)\|	116020001 \|Disorder of branched-chain amino acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
70731005 View
70731005	Acidemia (disorder)	Acidemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
116020001 View
116020001	Disorder of branched-chain amino acid metabolism (disorder)	Branched chain amino acid metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (5fe74de3-9a63-54a7-b5cf-39f1fdaebb26) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E71.1	TRUE	ALWAYS E71.1	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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