297254006: Hepatic and muscle glycogen phosphorylase kinase deficiency (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)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Digestive system finding (finding)\Liver finding\Disease of liver\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle 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 storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \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)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \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)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \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)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \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)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Fetal and/or neonatal disorder\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle 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 storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \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)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle 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 storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease type IX (disorder)\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle 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:

Id	Description	Lang	Type	Status	Case?	Module
437743017	Hepatic and muscle glycogen phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
692566019	Hepatic and muscle glycogen phosphorylase kinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6303311000241114	déficit hépatique et musculaire en glycogène phosphorylase kinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6303321000241119	déficit hépatique et musculaire en glycogène PhK (phosphorylase kinase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452391001000113	Glykogenose durch Leber- und Muskel-Phosphorylasekinase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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