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Terminology chevron_right Concepts chevron_right 237964009

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Component

237964009

The component that hold information about this concept.

Fully Specified Name (FSN)

Glycogen synthase deficiency (disorder)

Shortest Term

Thiếu hụt glycogen synthase

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

Glycogen synthase deficiency (disorder)

SCTID: 237964009, Primitive, Active

237964009|Glycogen synthase deficiency (disorder)|

vi Thiếu hụt glycogen synthase
en Glycogen storage disease type 0
en Glycogen synthase deficiency
en Glycogen synthase deficiency (disorder)

Expression

237964009 |Glycogen synthase deficiency (disorder)|
 <<< 42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| + 
235856003 |Disorder of liver (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
29633007 |Glycogen storage disease (disorder)| + 
75047002 |Disorder of skeletal muscle (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 10200004 |Liver structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
482831000003111 - thiếu hụt glycogen synthase (vi) View
482831000003111	vi	Synonym (core metadata concept)	thiếu hụt glycogen synthase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
356652018 - Glycogen storage disease type 0 (en) View
356652018	en	Synonym (core metadata concept)	Glycogen storage disease type 0	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
356651013 - Glycogen synthase deficiency (en) View
356651013	en	Synonym (core metadata concept)	Glycogen synthase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626775011 - Glycogen synthase deficiency (disorder) (en) View
626775011	en	Fully specified name (core metadata concept)	Glycogen synthase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15880845024) - 237964009 -> 42357009 (116680003) View
116680003 \|Is a (attribute)\|	42357009 \|Disorder of digestive system specific to fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526948022) - 237964009 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526949025) - 237964009 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526950025) - 237964009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3275646029) - 237964009 -> 280128006 (116680003) View
116680003 \|Is a (attribute)\|	280128006 \|Disorder of soft tissue of body cavity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2456724023) - 237964009 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2456725024) - 237964009 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2456726020) - 237964009 -> 235856003 (116680003) View
116680003 \|Is a (attribute)\|	235856003 \|Disorder of liver (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2456727027) - 237964009 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (53596028) - 237964009 -> 29633007 (116680003) View
116680003 \|Is a (attribute)\|	29633007 \|Glycogen storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
42357009 View
42357009	Disorder of digestive system specific to fetus or newborn (disorder)	Perinatal digestive system disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
29633007 View
29633007	Glycogen storage disease (disorder)	Glycogenosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
75047002 View
75047002	Disorder of skeletal muscle (disorder)	Disorder of muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
235856003 View
235856003	Disorder of liver (disorder)	Bệnh gan	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363080007 View
363080007	Digestive system hereditary disorder (disorder)	Digestive system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
725026008 View
725026008	Hepatic glycogen synthase deficiency (disorder)	Glycogenosis type 0a	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 (00d1095a-ce22-57e4-a2af-7c4352188a93) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.0	TRUE	ALWAYS E74.0	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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