237964009: Glycogen synthase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Glycogen synthase deficiency

\Digestive system finding (finding)\Liver finding\Disease of liver\Glycogen synthase deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Glycogen synthase deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Glycogen synthase deficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Glycogen synthase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Glycogen synthase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disease of liver\Glycogen synthase deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Glycogen synthase deficiency

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Glycogen synthase deficiency

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Glycogen synthase deficiency

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency

\Disorder of skeletal muscle\Glycogen synthase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen synthase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Glycogen synthase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Glycogen synthase deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Glycogen synthase deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Glycogen synthase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Glycogen synthase deficiency
\Disease\Disorder of muscle\Disorder of skeletal muscle\Glycogen synthase deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Glycogen synthase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen synthase deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen synthase deficiency
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen synthase deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Glycogen synthase 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

356651013 Glycogen synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
356652018 Glycogen storage disease type 0 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626775011 Glycogen synthase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5021201000241114 déficit en glycogène-synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen synthase deficiency	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen synthase deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Glycogen synthase deficiency	Finding site	Liver structure	true	Inferred relationship	Some	1
Glycogen synthase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	3
Glycogen synthase deficiency	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Glycogen synthase deficiency	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Glycogen synthase deficiency	Is a	Disease of liver	true	Inferred relationship	Some
Glycogen synthase deficiency	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Glycogen synthase deficiency	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hepatic glycogen synthase deficiency (disorder)	Is a	True	Glycogen synthase deficiency	Inferred relationship	Some
Muscle and heart glycogen synthase deficiency (disorder)	Due to	True	Glycogen synthase deficiency	Inferred relationship	Some	2
Muscle and heart glycogen synthase deficiency (disorder)	Is a	False	Glycogen synthase deficiency	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356651013	Glycogen synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356652018	Glycogen storage disease type 0	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626775011	Glycogen synthase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5021201000241114	déficit en glycogène-synthétase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module