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 phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency

\Digestive system finding (finding)\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen phosphorylase kinase deficiency\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\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Glycogen phosphorylase kinase deficiency\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 phosphorylase kinase deficiency\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\Disease of abdomen\Disorder of liver and/or biliary tract\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)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\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 storage disease\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle 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\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Hepatic and muscle glycogen phosphorylase kinase deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\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 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 storage disease\Glycogen phosphorylase kinase deficiency\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hepatic and muscle glycogen phosphorylase kinase deficiency	Is a	Glycogen phosphorylase kinase deficiency, autosomal recessive	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hepatic and muscle glycogen phosphorylase kinase deficiency	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hepatic and muscle glycogen phosphorylase kinase deficiency	Finding site	Liver structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hepatic and muscle glycogen phosphorylase kinase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hepatic and muscle glycogen phosphorylase kinase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hepatic and muscle glycogen phosphorylase kinase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hepatic and muscle glycogen phosphorylase kinase deficiency	Finding site	Liver structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
437743017	Hepatic and muscle glycogen phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
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
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
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