297254006: Hepatic and muscle glycogen phosphorylase kinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Finding of trunk structure\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\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 phosphorylase kinase deficiency\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 phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Disorder of body system\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Disorder of trunk (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\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 phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency

Status: current. Date: 31-Jan 2002

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

Expanded Value Set

This concept is not in any reference sets

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