819953000: glycogeenstapelingsziekte door deficiëntie van spiergebonden glycogeenfosforylasekinase (aandoening)

• 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)\Disorder of liver and/or biliary tract\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)\Disorder of digestive system specific to fetus OR newborn\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)\Disorder of liver and/or biliary tract\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)\Disorder of liver and/or biliary tract\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)\Disorder of liver and/or biliary tract\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary 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\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\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 foetus and/or newborn\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)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Glycogen phosphorylase kinase deficiency\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)\Disorder of liver and/or biliary tract\Disease of liver\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 system specific to fetus OR newborn\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)\Disorder of liver and/or biliary tract\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
• \Disease\Metabolic disease\Hereditary 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)

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
10195641000146117	glycogeenstapelingsziekte door deficiëntie van spiergebonden glycogeenfosforylasekinase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10195651000146119	glycogeenstapelingsziekte door deficiëntie van spiergebonden glycogeenfosforylasekinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10195661000146116	glycogenose door spiergebonden glycogeenfosforylasekinasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10320781000146114	GSD-9	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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