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Terminology chevron_right Concepts chevron_right 725027004

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Component

725027004

The component that hold information about this concept.

Fully Specified Name (FSN)

Muscle and heart glycogen synthase deficiency (disorder)

Shortest Term

Glycogenosis type 0b

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

Muscle and heart glycogen synthase deficiency (disorder)

SCTID: 725027004, Primitive, Active

725027004|Muscle and heart glycogen synthase deficiency (disorder)|

vi Thiếu hụt glycogen synthase ở cơ và tim
en Glycogenosis due to muscle and heart glycogen synthase deficiency
en Glycogenosis type 0b
en Glycogen storage disease due to muscle and heart glycogen synthase deficiency
en Glycogen storage disease type 0b
en Muscle and heart glycogen synthase deficiency
en Muscle and heart glycogen synthase deficiency (disorder)

Expression

725027004 |Muscle and heart glycogen synthase deficiency (disorder)|
 <<< 60738003 |Secondary myopathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
871638006 |Hypertrophic cardiomyopathy due to glycogen storage disease (disorder)| + 
29633007 |Glycogen storage disease (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
26111005 |Metabolic myopathy (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 56246009 |Hypertrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 74281007 |Myocardium structure (body structure)| }
        { 42752001 |Due to (attribute)| = 237964009 |Glycogen synthase deficiency (disorder)| }
        { 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
455551000003116 - thiếu hụt glycogen synthase ở cơ và tim (vi) View
455551000003116	vi	Synonym (core metadata concept)	thiếu hụt glycogen synthase ở cơ và tim	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
3437629010 - Glycogenosis due to muscle and heart glycogen synthase deficiency (en) View
3437629010	en	Synonym (core metadata concept)	Glycogenosis due to muscle and heart glycogen synthase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3437630017 - Glycogenosis type 0b (en) View
3437630017	en	Synonym (core metadata concept)	Glycogenosis type 0b	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3437627012 - Glycogen storage disease due to muscle and heart glycogen synthase deficiency (en) View
3437627012	en	Synonym (core metadata concept)	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3437628019 - Glycogen storage disease type 0b (en) View
3437628019	en	Synonym (core metadata concept)	Glycogen storage disease type 0b	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3437626015 - Muscle and heart glycogen synthase deficiency (en) View
3437626015	en	Synonym (core metadata concept)	Muscle and heart glycogen synthase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3437625016 - Muscle and heart glycogen synthase deficiency (disorder) (en) View
3437625016	en	Fully specified name (core metadata concept)	Muscle and heart 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 (15778763024) - 725027004 -> 60738003 (116680003) View
116680003 \|Is a (attribute)\|	60738003 \|Secondary myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874717020) - 725027004 -> 237964009 (116680003) View
116680003 \|Is a (attribute)\|	237964009 \|Glycogen synthase deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874719023) - 725027004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874720028) - 725027004 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874721029) - 725027004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6890360025) - 725027004 -> 56246009 (116676008) View
116676008 \|Associated morphology (attribute)\|	56246009 \|Hypertrophy (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6890361026) - 725027004 -> 74281007 (363698007) View
363698007 \|Finding site (attribute)\|	74281007 \|Myocardium structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7681221024) - 725027004 -> 762228008 (116680003) View
116680003 \|Is a (attribute)\|	762228008 \|Congenital cardiovascular disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13713285027) - 725027004 -> 29633007 (116680003) View
116680003 \|Is a (attribute)\|	29633007 \|Glycogen storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13713286026) - 725027004 -> 56246009 (116676008) View
116676008 \|Associated morphology (attribute)\|	56246009 \|Hypertrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13713287024) - 725027004 -> 74281007 (363698007) View
363698007 \|Finding site (attribute)\|	74281007 \|Myocardium structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13713289022) - 725027004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13713291025) - 725027004 -> 26111005 (116680003) View
116680003 \|Is a (attribute)\|	26111005 \|Metabolic myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874715028) - 725027004 -> 195029002 (116680003) View
116680003 \|Is a (attribute)\|	195029002 \|Cardiomyopathy associated with another disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874716027) - 725027004 -> 233873004 (116680003) View
116680003 \|Is a (attribute)\|	233873004 \|Hypertrophic cardiomyopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12838845020) - 725027004 -> 871638006 (116680003) View
116680003 \|Is a (attribute)\|	871638006 \|Hypertrophic cardiomyopathy due to glycogen storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874713024) - 725027004 -> 237964009 (42752001) View
42752001 \|Due to (attribute)\|	237964009 \|Glycogen synthase deficiency (disorder)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874714029) - 725027004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874718026) - 725027004 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874724021) - 725027004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6879026028) - 725027004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
871638006 View
871638006	Hypertrophic cardiomyopathy due to glycogen storage disease (disorder)	Glycogen storage disease with hypertrophic cardiomyopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
26111005 View
26111005	Metabolic myopathy (disorder)	Metabolic myopathy	900000000000074008 \|Necessary but not sufficient concept 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
60738003 View
60738003	Secondary myopathy (disorder)	Secondary myopathy	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
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular 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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (fa7c999e-c7b7-594e-90e7-25a088da9fea) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.0	TRUE	ALWAYS E74.0 \| 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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