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Terminology chevron_right Concepts chevron_right 124302001

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Component

124302001

The component that hold information about this concept.

Fully Specified Name (FSN)

Deficiency of galactokinase (disorder)

Shortest Term

Galk

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 galactokinase (disorder)

SCTID: 124302001, Primitive, Active

124302001|Deficiency of galactokinase (disorder)|

en Galk (galactokinase) deficiency
en Deficiency of galactokinase
en Deficiency of galactokinase (disorder)
en Galactokinase deficiency
en Galactokinase deficiency galactosaemia
en Galactokinase deficiency galactosemia
en Galactosaemia - galactokinase deficiency
en Galactosemia - galactokinase deficiency
en Galactosaemia ii
en Galactosemia ii

Expression

124302001 |Deficiency of galactokinase (disorder)|
 <<< 124237001 |Deficiency of transferase (disorder)| + 
190745006 |Galactosemia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
473227019 - GALK (en) View
473227019	en	Synonym (core metadata concept)	GALK	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5244209013 - GALK (galactokinase) deficiency (en) View
5244209013	en	Synonym (core metadata concept)	GALK (galactokinase) deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
473229016 - GALK - Galactokinase deficiency (en) View
473229016	en	Synonym (core metadata concept)	GALK - Galactokinase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
204013015 - Deficiency of galactokinase (en) View
204013015	en	Synonym (core metadata concept)	Deficiency of galactokinase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
727904012 - Deficiency of galactokinase (disorder) (en) View
727904012	en	Fully specified name (core metadata concept)	Deficiency of galactokinase (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
473228012 - Galactokinase deficiency (en) View
473228012	en	Synonym (core metadata concept)	Galactokinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
473231013 - Galactokinase deficiency galactosaemia (en) View
473231013	en	Synonym (core metadata concept)	Galactokinase deficiency galactosaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
473224014 - Galactokinase deficiency galactosemia (en) View
473224014	en	Synonym (core metadata concept)	Galactokinase deficiency galactosemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
473226011 - Galactosaemia - galactokinase deficiency (en) View
473226011	en	Synonym (core metadata concept)	Galactosaemia - galactokinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
473230014 - Galactosemia - galactokinase deficiency (en) View
473230014	en	Synonym (core metadata concept)	Galactosemia - galactokinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
473232018 - Galactosaemia II (en) View
473232018	en	Synonym (core metadata concept)	Galactosaemia II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
473225010 - Galactosemia II (en) View
473225010	en	Synonym (core metadata concept)	Galactosemia II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15667600027) - 124302001 -> 190745006 (116680003) View
116680003 \|Is a (attribute)\|	190745006 \|Galactosemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15667601028) - 124302001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (690293021) - 124302001 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (157329029) - 124302001 -> 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
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 (34fdaabe-a7c1-5602-9cb8-8d209859ac75) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.2	TRUE	ALWAYS E74.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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