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Terminology chevron_right Concepts chevron_right 8849004

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Component

8849004

The component that hold information about this concept.

Fully Specified Name (FSN)

Uridine diphosphate glucose-4-epimerase deficiency (disorder)

Shortest Term

Gale

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

Uridine diphosphate glucose-4-epimerase deficiency (disorder)

SCTID: 8849004, Primitive, Active

8849004|Uridine diphosphate glucose-4-epimerase deficiency (disorder)|

en Gale (udp-galactose-4-epimerase) deficiency
en Udp (uridine diphosphate) galactose-4-epimerase deficiency
en Udp (uridine diphosphate) glucose-4-epimerase deficiency
en Epimerase deficiency
en Galactosaemia - epimerase deficiency
en Galactose epimerase deficiency
en Galactosemia - epimerase deficiency
en Uridine diphosphate galactose-4 epimerase deficiency
en Uridine diphosphate galactose-4-epimerase deficiency
en Uridine diphosphate glucose-4-epimerase deficiency
en Uridine diphosphate glucose-4-epimerase deficiency (disorder)
en Galactosaemia iii
en Galactosemia iii

Expression

8849004 |Uridine diphosphate glucose-4-epimerase deficiency (disorder)|
 <<< 190745006 |Galactosemia (disorder)| + 
129456006 |Specific enzyme deficiency (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
15610016 - GALE (en) View
15610016	en	Synonym (core metadata concept)	GALE	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5244092019 - GALE (UDP-galactose-4-epimerase) deficiency (en) View
5244092019	en	Synonym (core metadata concept)	GALE (UDP-galactose-4-epimerase) deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
15608018 - UDPgalactose-4-epimerase deficiency (en) View
15608018	en	Synonym (core metadata concept)	UDPgalactose-4-epimerase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
15606019 - UDPglucose-4-epimerase deficiency (en) View
15606019	en	Synonym (core metadata concept)	UDPglucose-4-epimerase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
5244093012 - UDP (uridine diphosphate) galactose-4-epimerase deficiency (en) View
5244093012	en	Synonym (core metadata concept)	UDP (uridine diphosphate) galactose-4-epimerase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5244094018 - UDP (uridine diphosphate) glucose-4-epimerase deficiency (en) View
5244094018	en	Synonym (core metadata concept)	UDP (uridine diphosphate) glucose-4-epimerase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2621311018 - Uridine diphosphate (UDP) glucose-4-epimerase deficiency (en) View
2621311018	en	Synonym (core metadata concept)	Uridine diphosphate (UDP) glucose-4-epimerase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1235351010 - Epimerase deficiency (en) View
1235351010	en	Synonym (core metadata concept)	Epimerase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1217060017 - Galactosaemia - epimerase deficiency (en) View
1217060017	en	Synonym (core metadata concept)	Galactosaemia - epimerase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
15607011 - Galactose epimerase deficiency (en) View
15607011	en	Synonym (core metadata concept)	Galactose epimerase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1218548013 - Galactosemia - epimerase deficiency (en) View
1218548013	en	Synonym (core metadata concept)	Galactosemia - epimerase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
15609014 - Uridine diphosphate galactose-4 epimerase deficiency (en) View
15609014	en	Synonym (core metadata concept)	Uridine diphosphate galactose-4 epimerase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1235352015 - Uridine diphosphate galactose-4-epimerase deficiency (en) View
1235352015	en	Synonym (core metadata concept)	Uridine diphosphate galactose-4-epimerase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2914071016 - Uridine diphosphate glucose-4-epimerase deficiency (en) View
2914071016	en	Synonym (core metadata concept)	Uridine diphosphate glucose-4-epimerase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2915144010 - Uridine diphosphate glucose-4-epimerase deficiency (disorder) (en) View
2915144010	en	Fully specified name (core metadata concept)	Uridine diphosphate glucose-4-epimerase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2612732012 - Uridine diphosphate (UDP) glucose-4-epimerase deficiency (disorder) (en) View
2612732012	en	Fully specified name (core metadata concept)	Uridine diphosphate (UDP) glucose-4-epimerase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
831185010 - UDPglucose-4-epimerase deficiency (disorder) (en) View
831185010	en	Fully specified name (core metadata concept)	UDPglucose-4-epimerase deficiency (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
508057016 - Galactosaemia III (en) View
508057016	en	Synonym (core metadata concept)	Galactosaemia III	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
15611017 - Galactosemia III (en) View
15611017	en	Synonym (core metadata concept)	Galactosemia III	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15667599025) - 8849004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (896219028) - 8849004 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2552226027) - 8849004 -> 129456006 (116680003) View
116680003 \|Is a (attribute)\|	129456006 \|Specific enzyme deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (292614023) - 8849004 -> 190745006 (116680003) View
116680003 \|Is a (attribute)\|	190745006 \|Galactosemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
129456006 View
129456006	Specific enzyme deficiency (disorder)	Specific enzyme deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190745006 View
190745006	Galactosemia (disorder)	Galactosemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
297237003 View
297237003	Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder)	Generalised uridine diphosphate galactose-4-epimerase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
297238008 View
297238008	Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder)	Erythrocyte uridine diphosphate galactose-4-epimerase 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 (30b28f68-34cb-5a88-87c3-71b4bd71160c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.2	TRUE	ALWAYS E74.2	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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