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Terminology chevron_right Concepts chevron_right 29633007

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Component

29633007

The component that hold information about this concept.

Fully Specified Name (FSN)

Glycogen storage disease (disorder)

Shortest Term

Glycogenosis

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Glycogen storage disease (disorder)

SCTID: 29633007, Defined, Active

29633007|Glycogen storage disease (disorder)|

en Glycogenosis
en Glycogen storage disease
en Glycogen storage disease (disorder)
en Gsd - glycogen storage disease

Expression

29633007 |Glycogen storage disease (disorder)|
 === 20957000 |Disorder of carbohydrate metabolism (disorder)| + 
34420000 |Storage disease (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
49570016 - Glycogenosis (en) View
49570016	en	Synonym (core metadata concept)	Glycogenosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
49567015 - Glycogen storage disease (en) View
49567015	en	Synonym (core metadata concept)	Glycogen storage disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
760549016 - Glycogen storage disease (disorder) (en) View
760549016	en	Fully specified name (core metadata concept)	Glycogen storage disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
49569017 - Glycogenosis, NOS (en) View
49569017	en	Synonym (core metadata concept)	Glycogenosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
49568013 - Glycogen storage disease, NOS (en) View
49568013	en	Synonym (core metadata concept)	Glycogen storage disease, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
484344015 - GSD - Glycogen storage disease (en) View
484344015	en	Synonym (core metadata concept)	GSD - Glycogen storage disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (746129025) - 29633007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2485131027) - 29633007 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196196024) - 29633007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196197026) - 29633007 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196201026) - 29633007 -> 235903001 (116680003) View
116680003 \|Is a (attribute)\|	235903001 \|Metabolic and genetic disorder affecting the liver (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196203028) - 29633007 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196204023) - 29633007 -> 26111005 (116680003) View
116680003 \|Is a (attribute)\|	26111005 \|Metabolic myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196206020) - 29633007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (746128022) - 29633007 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (746130024) - 29633007 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196198020) - 29633007 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196200025) - 29633007 -> 69518005 (116680003) View
116680003 \|Is a (attribute)\|	69518005 \|Congenital anomaly of digestive system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196205024) - 29633007 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196199028) - 29633007 -> 20957000 (116680003) View
116680003 \|Is a (attribute)\|	20957000 \|Disorder of carbohydrate metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (196202022) - 29633007 -> 34420000 (116680003) View
116680003 \|Is a (attribute)\|	34420000 \|Storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
20957000 View
20957000	Disorder of carbohydrate metabolism (disorder)	Disorder of carbohydrate metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
34420000 View
34420000	Storage disease (disorder)	Thesaurosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
358501000112100 View
358501000112100	Protein kinase adenosine monophosphate-activated non catalytic subunit gamma 2 syndrome (disorder)	Prkag2 syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1230303001 View
1230303001	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder)	Fatal congenital hypertrophic cardiomyopathy due to glycogenosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1228849007 View
1228849007	Polyglucosan body myopathy type 2 (disorder)	Polyglucosan body myopathy type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187461004 View
1187461004	Glycogen storage disease due to aldolase a deficiency (disorder)	Glycogenosis type 12	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187462006 View
1187462006	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder)	Glycogenosis due to phosphoglycerate kinase 1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1186809004 View
1186809004	Glycogen storage disease due to lactate dehydrogenase deficiency (disorder)	Glycogen storage disease type xi	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
195025008 View
195025008	Cardiac glycogenosis (disorder)	Cardiac glycogenosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
860858001 View
860858001	Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)	Glycogen storage disease due to muscle pyruvate kinase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774148007 View
774148007	Polyglucosan body myopathy type 1 (disorder)	Polyglucosan body myopathy type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725027004 View
725027004	Muscle and heart glycogen synthase deficiency (disorder)	Glycogenosis type 0b	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717821004 View
717821004	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)	Glycogen storage disease type 15	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721099001 View
721099001	Adult polyglucosan body disease (disorder)	Adult polyglucosan body disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
707551007 View
707551007	Pulmonary interstitial glycogenosis (disorder)	Bệnh phổi kẽ	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
459062008 View
459062008	Fatal congenital nonlysosomal heart glycogenosis (disorder)	Fatal congenital nonlysosomal heart glycogenosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
419097006 View
419097006	Danon disease (disorder)	Danon disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
6075009 View
6075009	Glycogen storage disease, hepatic form (disorder)	Bệnh dự trữ glycogen, thể gan	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
15978003 View
15978003	Glycogen storage disease, muscular form (disorder)	Glycogen storage disease, muscular form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61598006 View
61598006	Glycogenosis with glucoaminophosphaturia (disorder)	Fanconi-bickel syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61772003 View
61772003	Muscle phosphoglycerate mutase deficiency (disorder)	Phosphoglucomutase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
235908005 View
235908005	Glycogen phosphorylase kinase deficiency (disorder)	Glycogenosis viiia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237964009 View
237964009	Glycogen synthase deficiency (disorder)	Thiếu hụt glycogen synthase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237965005 View
237965005	Phosphate transport defect (disorder)	Phosphate transport defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237966006 View
237966006	Glucose transport defect (disorder)	Glucose transport defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
267424007 View
267424007	Generalized glycogenosis (disorder)	Generalised glycogenosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
274864009 View
274864009	Glycogen storage disease due to acid maltase deficiency (disorder)	Pompe disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
367406009 View
367406009	Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase (disorder)	Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase	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 (69377ed4-bb46-5cfe-a53a-05c652049626) 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)\|

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (746129025) - 29633007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2485131027) - 29633007 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196196024) - 29633007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196197026) - 29633007 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196201026) - 29633007 -> 235903001 (116680003) View
116680003 \|Is a (attribute)\|	235903001 \|Metabolic and genetic disorder affecting the liver (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196203028) - 29633007 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196204023) - 29633007 -> 26111005 (116680003) View
116680003 \|Is a (attribute)\|	26111005 \|Metabolic myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196206020) - 29633007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (746128022) - 29633007 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (746130024) - 29633007 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196198020) - 29633007 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196200025) - 29633007 -> 69518005 (116680003) View
116680003 \|Is a (attribute)\|	69518005 \|Congenital anomaly of digestive system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196205024) - 29633007 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (196199028) - 29633007 -> 20957000 (116680003) View
116680003 \|Is a (attribute)\|	20957000 \|Disorder of carbohydrate metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (196202022) - 29633007 -> 34420000 (116680003) View
116680003 \|Is a (attribute)\|	34420000 \|Storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

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