819953000: Glycogen storage disease due to muscle phosphorylase kinase deficiency (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 due to muscle phosphorylase kinase deficiency (disorder)

\Digestive system finding (finding)\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\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 due to muscle phosphorylase kinase deficiency (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Disease\Metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3858288010 Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3858289019 Glycogen storage disease due to muscle phosphorylase kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3858290011 Glycogen storage disease type 9D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3858291010 Glycogen storage disease type IXd en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3858292015 Glycogenosis type 9D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3858293013 A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4476831000052111 glykogeninlagringssjukdom orsakad av brist på muskelfosforylaskinas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	Is a	Glycogen phosphorylase kinase deficiency	true	Inferred relationship	Some
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	Finding site	Liver structure	true	Inferred relationship	Some	1
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3858288010	Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3858289019	Glycogen storage disease due to muscle phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3858290011	Glycogen storage disease type 9D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3858291010	Glycogen storage disease type IXd	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3858292015	Glycogenosis type 9D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3858293013	A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4476831000052111	glykogeninlagringssjukdom orsakad av brist på muskelfosforylaskinas	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)