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Terminology chevron_right Concepts chevron_right 235908005

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Component

235908005

The component that hold information about this concept.

Fully Specified Name (FSN)

Glycogen phosphorylase kinase deficiency (disorder)

Shortest Term

Glycogenosis viiia

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 phosphorylase kinase deficiency (disorder)

SCTID: 235908005, Primitive, Active

235908005|Glycogen phosphorylase kinase deficiency (disorder)|

vi Thiếu hụt glycogen phosphorylase kinase
en Glycogenosis viiia
en Glycogen phosphorylase kinase deficiency
en Glycogen storage disease type ix (disorder)
en Hepatic phosphorylase kinase deficiency
en Phosphorylase kinase deficiency of liver
en Glycogen storage disease type ix
en Phk - hepatic phosphorylase kinase deficiency

Expression

235908005 |Glycogen phosphorylase kinase deficiency (disorder)|
 <<< 29633007 |Glycogen storage disease (disorder)| + 
235856003 |Disorder of liver (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| : 
        { 363698007 |Finding site (attribute)| = 10200004 |Liver 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
472591000003117 - thiếu hụt glycogen phosphorylase kinase (vi) View
472591000003117	vi	Synonym (core metadata concept)	thiếu hụt glycogen phosphorylase kinase	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
353643015 - Glycogenosis viiia (en) View
353643015	en	Synonym (core metadata concept)	Glycogenosis viiia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
353637017 - Glycogen phosphorylase kinase deficiency (en) View
353637017	en	Synonym (core metadata concept)	Glycogen phosphorylase kinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
624431011 - Glycogen phosphorylase kinase deficiency (disorder) (en) View
624431011	en	Fully specified name (core metadata concept)	Glycogen phosphorylase kinase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
3441358013 - Glycogen storage disease type IX (disorder) (en) View
3441358013	en	Fully specified name (core metadata concept)	Glycogen storage disease type IX (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
353638010 - Glycogen storage disease VIII (en) View
353638010	en	Synonym (core metadata concept)	Glycogen storage disease VIII	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
353640017 - Hepatic phosphorylase kinase deficiency (en) View
353640017	en	Synonym (core metadata concept)	Hepatic phosphorylase kinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
353641018 - Phosphorylase kinase deficiency of liver (en) View
353641018	en	Synonym (core metadata concept)	Phosphorylase kinase deficiency of liver	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
353642013 - Glycogen storage disease type IX (en) View
353642013	en	Synonym (core metadata concept)	Glycogen storage disease type IX	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
353639019 - PHK - Hepatic phosphorylase kinase deficiency (en) View
353639019	en	Synonym (core metadata concept)	PHK - Hepatic phosphorylase kinase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15880843028) - 235908005 -> 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 (520337029) - 235908005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6888339024) - 235908005 -> 235856003 (116680003) View
116680003 \|Is a (attribute)\|	235856003 \|Disorder of liver (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6888340021) - 235908005 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6888341020) - 235908005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6888342029) - 235908005 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2476642020) - 235908005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (520338023) - 235908005 -> 10200004 (363698007) View
363698007 \|Finding site (attribute)\|	10200004 \|Liver structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (520339026) - 235908005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (50609024) - 235908005 -> 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
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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
860860004 View
860860004	Glycogen storage disease type ixb (disorder)	Bệnh dự trữ glycogen typ ixb	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
819953000 View
819953000	Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	Glycogenosis type 9d	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
297252005 View
297252005	Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder)	Glycogen phosphorylase kinase deficiency, autosomal recessive	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 (238149d7-e394-547d-a4e7-50d01a7694fa) 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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