725026008: Hepatic glycogen synthase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Digestive system finding\Liver finding\Liver disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disorder of skeletal muscle\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Myopathy\Disorder of skeletal muscle\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Glycogen synthase deficiency\Glycogen storage disease due to hepatic glycogen synthase deficiency

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3437632013	Hepatic glycogen synthase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3437633015	Hepatic glycogen synthase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3437634014	Glycogen storage disease due to hepatic glycogen synthase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3437635010	Glycogen storage disease due to liver glycogen synthase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3437636011	Glycogen storage disease type 0a	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437637019	Glycogenosis type 0a	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437638012	A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterized by fasting hypoglycemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3437639016	A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterised by fasting hypoglycaemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonaemia but without hyperalaninaemia or hyperlactacidaemia. After meals, major hyperglycaemia associated with lactate and alanine increase and hyperlipidaemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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