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 phosphorylase kinase deficiency

\Digestive system finding (finding)\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency
\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
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen phosphorylase kinase deficiency

\Finding of trunk structure (finding)\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
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency
\Finding of trunk structure (finding)\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
\Finding of trunk structure (finding)\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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen phosphorylase kinase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen phosphorylase kinase deficiency
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency
\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
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen phosphorylase kinase deficiency
\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
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen phosphorylase kinase deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen phosphorylase kinase deficiency

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 phosphorylase kinase deficiency	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Finding site	Liver structure	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Is a	Disease of liver	true	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen phosphorylase kinase deficiency	Finding site	Liver structure	true	Inferred relationship	Some	1
Glycogen phosphorylase kinase deficiency	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
glycogenphosphorylasekinasemangel, X-bundet	Is a	False	Glycogen phosphorylase kinase deficiency	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	Is a	True	Glycogen phosphorylase kinase deficiency	Inferred relationship	Some
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.	Is a	True	Glycogen phosphorylase kinase deficiency	Inferred relationship	Some
Glycogen storage disease type IXB (disorder)	Is a	True	Glycogen phosphorylase kinase deficiency	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
2033281000005111	Glykogenphosphorylasekinasemangel	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)