725026008: Hepatic glycogen synthase deficiency (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\Glycogen synthase deficiency\Hepatic glycogen synthase deficiency (disorder)

\Finding of trunk structure\Liver finding\Disease of liver\Glycogen synthase deficiency\Hepatic glycogen synthase deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Glycogen synthase deficiency\Hepatic glycogen synthase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen synthase deficiency\Hepatic glycogen synthase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hepatic glycogen synthase deficiency (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen synthase deficiency\Hepatic glycogen synthase deficiency (disorder)
\Disease\Disorder of body system\Disease of liver\Glycogen synthase deficiency\Hepatic glycogen synthase deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Glycogen synthase deficiency\Hepatic glycogen synthase deficiency (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen synthase deficiency\Hepatic glycogen synthase deficiency (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen synthase deficiency\Hepatic glycogen synthase deficiency (disorder)

Status: current. Date: 31-Jul 2017

Descriptions:

Id Description Lang Type Status Case? Module

3437632013 Hepatic glycogen synthase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437633015 Hepatic glycogen synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437634014 Glycogen storage disease due to hepatic glycogen synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437635010 Glycogen storage disease due to liver glycogen synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437636011 Glycogen storage disease type 0a en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3437637019 Glycogenosis type 0a en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Inactive Entire term case sensitive (core metadata concept) 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5403350012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403351011 A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterised by fasting hypoglycaemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hepatic glycogen synthase deficiency (disorder)	Is a	Glycogen synthase deficiency	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Hepatic glycogen synthase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Hepatic glycogen synthase deficiency (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Hepatic glycogen synthase deficiency (disorder)	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Hepatic glycogen synthase deficiency (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Hepatic glycogen synthase deficiency (disorder)	Finding site	Skeletal muscle structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

US English

Congenital syphilitic hepatomegaly

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3437632013	Hepatic glycogen synthase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437633015	Hepatic glycogen synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437634014	Glycogen storage disease due to hepatic glycogen synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437635010	Glycogen storage disease due to liver glycogen synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437636011	Glycogen storage disease type 0a	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437637019	Glycogenosis type 0a	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403350012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403351011	A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterised by fasting hypoglycaemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core