860860004: Glycogen storage disease type IXB (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease type IXB

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease type IXB	Is a	Glycogen phosphorylase kinase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease type IXB	Finding site	Liver structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease type IXB	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3944369015	Glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3977970010	Glycogen storage disease type IXB (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3977971014	Glycogen storage disease type IXB	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3944369015	Glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3977970010	Glycogen storage disease type IXB (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3977971014	Glycogen storage disease type IXB	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6297141000241110	glycogénose par déficit en phosphorylase kinase hépatique et musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6297151000241113	maladie du stockage du glycogène de type IXb	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6297161000241111	glycogénose de type 9B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6297141000241110	glycogénose par déficit en phosphorylase kinase hépatique et musculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6297151000241113	maladie du stockage du glycogène de type IXb	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6297161000241111	glycogénose de type 9B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module