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Terminology chevron_right Concepts chevron_right 124354006

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Component

124354006

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)

Shortest Term

Galt 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

Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)

SCTID: 124354006, Primitive, Active

124354006|Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)|

en Classical galactosaemia
en Classical galactosemia
en Deficiency of galactose-1-phosphate uridyl transferase
en Deficiency of hexose-1-phosphate uridylyltransferase
en Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase
en Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)
en Deficiency of uridyl transferase
en Transferase deficiency galactosaemia
en Transferase deficiency galactosemia
en Galt deficiency
en Deficiency of udpglucose-hexose-1-phosphate uridylyltransferase

Expression

124354006 |Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)|
 <<< 124237001 |Deficiency of transferase (disorder)| + 
190745006 |Galactosemia (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2881920013 - Classical galactosaemia (en) View
2881920013	en	Synonym (core metadata concept)	Classical galactosaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2881916014 - Classical galactosemia (en) View
2881916014	en	Synonym (core metadata concept)	Classical galactosemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2881917017 - Deficiency of galactose-1-phosphate uridyl transferase (en) View
2881917017	en	Synonym (core metadata concept)	Deficiency of galactose-1-phosphate uridyl transferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
204124015 - Deficiency of hexose-1-phosphate uridylyltransferase (en) View
204124015	en	Synonym (core metadata concept)	Deficiency of hexose-1-phosphate uridylyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2914855017 - Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (en) View
2914855017	en	Synonym (core metadata concept)	Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2915218017 - Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) (en) View
2915218017	en	Fully specified name (core metadata concept)	Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
204123014 - Deficiency of uridyl transferase (en) View
204123014	en	Synonym (core metadata concept)	Deficiency of uridyl transferase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2881919019 - Transferase deficiency galactosaemia (en) View
2881919019	en	Synonym (core metadata concept)	Transferase deficiency galactosaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2881918010 - Transferase deficiency galactosemia (en) View
2881918010	en	Synonym (core metadata concept)	Transferase deficiency galactosemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
728021015 - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (disorder) (en) View
728021015	en	Fully specified name (core metadata concept)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2881915013 - GALT deficiency (en) View
2881915013	en	Synonym (core metadata concept)	GALT deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
204125019 - Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (en) View
204125019	en	Synonym (core metadata concept)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3793998025) - 124354006 -> 190745006 (116680003) View
116680003 \|Is a (attribute)\|	190745006 \|Galactosemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (690361027) - 124354006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157453023) - 124354006 -> 124237001 (116680003) View
116680003 \|Is a (attribute)\|	124237001 \|Deficiency of transferase (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
124237001 View
124237001	Deficiency of transferase (disorder)	Deficiency of transferase	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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (9277597e-297e-5f5d-ba88-1d5039d74671) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	TRUE	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE	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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