297252005: autosomaal recessieve glycogeenfosforylasekinasedeficiëntie (aandoening)

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

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

\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 phosphorylase kinase deficiency, autosomal recessive
\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
\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 phosphorylase kinase deficiency, autosomal recessive
\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 phosphorylase kinase deficiency, autosomal recessive

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

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, autosomal recessive	Is a	Glycogen phosphorylase kinase deficiency	true	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	Finding site	Liver structure	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	Occurrence	Congenital	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	Finding site	Body system structure	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen phosphorylase kinase deficiency, autosomal recessive	Finding site	Liver structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cardiac glycogen phosphorylase kinase deficiency	Is a	True	Glycogen phosphorylase kinase deficiency, autosomal recessive	Inferred relationship	Some
Hepatic and muscle glycogen phosphorylase kinase deficiency	Is a	True	Glycogen phosphorylase kinase deficiency, autosomal recessive	Inferred relationship	Some
Hepatic glycogen phosphorylase kinase deficiency	Is a	True	Glycogen phosphorylase kinase deficiency, autosomal recessive	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
437741015	Glycogen phosphorylase kinase deficiency, autosomal recessive	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
692563010	Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6026501000146115	autosomaal recessieve glycogeenfosforylasekinasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6026511000146118	autosomaal recessieve glycogeenfosforylasekinasedeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6104101000146117	autosomaal recessieve deficiëntie van glycogeenfosforylasekinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)