297252005: Glycogen phosphorylase kinase deficiency, autosomal recessive (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

\Digestive system finding (finding)\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive
\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
\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

\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
\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\Disease of abdomen\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\Disease of abdomen\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 (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive
\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
\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 (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive
\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
\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
\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
\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	Existential restriction modifier (core metadata concept)
Glycogen phosphorylase kinase deficiency, autosomal recessive	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen phosphorylase kinase deficiency, autosomal recessive	Finding site	Liver structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen phosphorylase kinase deficiency, autosomal recessive	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen phosphorylase kinase deficiency, autosomal recessive	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen phosphorylase kinase deficiency, autosomal recessive	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen phosphorylase kinase deficiency, autosomal recessive	Finding site	Liver structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)
Hepatic and muscle glycogen phosphorylase kinase deficiency	Is a	True	Glycogen phosphorylase kinase deficiency, autosomal recessive	Inferred relationship	Existential restriction modifier (core metadata concept)
Hepatic glycogen phosphorylase kinase deficiency	Is a	True	Glycogen phosphorylase kinase deficiency, autosomal recessive	Inferred relationship	Existential restriction modifier (core metadata concept)

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
437741015	Glycogen phosphorylase kinase deficiency, autosomal recessive	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
5164741000241118	déficit en glycogène phosphorylase-kinase autosomale récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5164741000241118	déficit en glycogène phosphorylase-kinase autosomale récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module