235908005: Glycogen storage disease type IX (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Glycogen storage disease type IX (disorder)

\Digestive system finding (finding)\Liver finding\Disease of liver\Glycogen storage disease type IX (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Glycogen storage disease type IX (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease type IX (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Glycogen storage disease type IX (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Glycogen storage disease type IX (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Glycogen storage disease type IX (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Glycogen storage disease type IX (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease type IX (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease type IX (disorder)
\Disease\Fetal and/or neonatal disorder\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease type IX (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Glycogen storage disease type IX (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease type IX (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Glycogen storage disease type IX (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease type IX (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease type IX (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease type IX (disorder)	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	Finding site	Liver structure	false	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	Is a	Disease of liver	true	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Glycogen storage disease type IX (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease type IX (disorder)	Finding site	Liver structure	true	Inferred relationship	Some	1
Glycogen storage disease type IX (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycogen phosphorylase kinase deficiency, X-linked	Is a	False	Glycogen storage disease type IX (disorder)	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	Is a	True	Glycogen storage disease type IX (disorder)	Inferred relationship	Some
Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.	Is a	True	Glycogen storage disease type IX (disorder)	Inferred relationship	Some
Glycogen storage disease type IXB (disorder)	Is a	True	Glycogen storage disease type IX (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
353637017	Glycogen phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
353639019	PHK - Hepatic phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
353640017	Hepatic phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
353641018	Phosphorylase kinase deficiency of liver	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
353642013	Glycogen storage disease type IX	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
353643015	Glycogenosis viiia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441358013	Glycogen storage disease type IX (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6940681000241119	glycogénose de type IX	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6940691000241117	maladie du stockage du glycogène de type IX	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392311001000118	Glykogenose durch Leberphosphorylasekinasemangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module