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\Glycogen synthase deficiency
\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 synthase deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen synthase deficiency

\Finding of trunk structure (finding)\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 synthase deficiency
\Finding of trunk structure (finding)\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)\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 synthase deficiency
\Finding of trunk structure (finding)\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 synthase deficiency

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

\Muscle finding\Disorder of skeletal AND/OR smooth muscle (disorder)\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\Glycogen synthase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen synthase deficiency
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\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\Glycogen synthase deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Glycogen synthase deficiency
\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 synthase deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\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 skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Glycogen synthase deficiency
\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 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\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:

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	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
Glycogen synthase deficiency	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.	Is a	True	Glycogen synthase deficiency	Inferred relationship	Some
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.	Due to	True	Glycogen synthase deficiency	Inferred relationship	Some	2
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.	Is a	False	Glycogen synthase deficiency	Inferred relationship	Some

This concept is not in any reference sets

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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
1498741000005117	glykogensyntasemangel	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)