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Terminology chevron_right Concepts chevron_right 22886006

Production

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Component

22886006

The component that hold information about this concept.

Fully Specified Name (FSN)

Glutaric aciduria, type 2 (disorder)

Shortest Term

Ema

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

Glutaric aciduria, type 2 (disorder)

SCTID: 22886006, Primitive, Active

22886006|Glutaric aciduria, type 2 (disorder)|

en Madd - multiple acyl-coa dehydrogenase deficiency
en Ethylmalonic-adipicaciduria
en Glutaric acidaemia, type 2
en Glutaric acidemia, type 2
en Glutaric aciduria, type 2
en Glutaric aciduria, type 2 (disorder)
en Glutaric aciduria type ii
en Mad - multiple acyl-coa dehydrogenase deficiency

Expression

22886006 |Glutaric aciduria, type 2 (disorder)|
 <<< 39929009 |Disorder of fatty acid metabolism (disorder)| + 
28987007 |Glutaric aciduria (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
38415014 - ACAD (en) View
38415014	en	Synonym (core metadata concept)	ACAD	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
38418011 - EMA (en) View
38418011	en	Synonym (core metadata concept)	EMA	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
38416010 - GA II (en) View
38416010	en	Synonym (core metadata concept)	GA II	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
4637156012 - MADD - multiple acyl-CoA dehydrogenase deficiency (en) View
4637156012	en	Synonym (core metadata concept)	MADD - multiple acyl-CoA dehydrogenase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
481459014 - Multiple acyl-CoA dehydrogenase deficiencies (en) View
481459014	en	Synonym (core metadata concept)	Multiple acyl-CoA dehydrogenase deficiencies	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
38414013 - Ethylmalonic-adipicaciduria (en) View
38414013	en	Synonym (core metadata concept)	Ethylmalonic-adipicaciduria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
481460016 - Glutaric acidaemia, type 2 (en) View
481460016	en	Synonym (core metadata concept)	Glutaric acidaemia, type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
38417018 - Glutaric acidemia, type 2 (en) View
38417018	en	Synonym (core metadata concept)	Glutaric acidemia, type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
38413019 - Glutaric aciduria, type 2 (en) View
38413019	en	Synonym (core metadata concept)	Glutaric aciduria, type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
752344016 - Glutaric aciduria, type 2 (disorder) (en) View
752344016	en	Fully specified name (core metadata concept)	Glutaric aciduria, type 2 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
481457011 - Glutaric aciduria type II (en) View
481457011	en	Synonym (core metadata concept)	Glutaric aciduria type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
481458018 - MAD - Multiple acyl-CoA dehydrogenase deficiency (en) View
481458018	en	Synonym (core metadata concept)	MAD - Multiple acyl-CoA dehydrogenase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14023508028) - 22886006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (729309027) - 22886006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (729308024) - 22886006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (185341028) - 22886006 -> 39929009 (116680003) View
116680003 \|Is a (attribute)\|	39929009 \|Disorder of fatty acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (185342024) - 22886006 -> 28987007 (116680003) View
116680003 \|Is a (attribute)\|	28987007 \|Glutaric aciduria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
28987007 View
28987007	Glutaric aciduria (disorder)	Glutaric aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
39929009 View
39929009	Disorder of fatty acid metabolism (disorder)	Disorder of fat oxidation	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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1187534001 View
1187534001	Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency (disorder)	Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187541007 View
1187541007	Beta chain electron transfer flavoprotein deficiency (disorder)	Beta chain electron transfer flavoprotein deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187542000 View
1187542000	Alpha chain electron transfer flavoprotein deficiency (disorder)	Alpha chain electron transfer flavoprotein deficiency	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 (383cc3d7-128d-5af1-b9be-d10dedd220fc) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.3	TRUE	ALWAYS E72.3	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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