37666005: Glycogen storage disease type X (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X

\Digestive system finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease type X
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease type X

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

62830011 Glycogen storage disease type X en Synonym Active Initial character case insensitive SNOMED CT core
62831010 GSD X en Synonym Active Case sensitive SNOMED CT core
62832015 Glycogenosis due to inactive phosphorylase and kinase en Synonym Inactive Initial character case insensitive SNOMED CT core
62833013 Glycogenosis due to inactive phosphorylase AND kinase en Synonym Active Initial character case insensitive SNOMED CT core
769559012 Glycogen storage disease type X (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease type X	Is a	Glycogen storage disease	false	Inferred relationship	Some
Glycogen storage disease type X	Is a	Glycogen storage disease, hepatic form	true	Inferred relationship	Some
Glycogen storage disease type X	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glycogen storage disease type X	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease type X	Finding site	Liver structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
62830011	Glycogen storage disease type X	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
62831010	GSD X	en	Synonym	Active	Case sensitive	SNOMED CT core
62832015	Glycogenosis due to inactive phosphorylase and kinase	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
62833013	Glycogenosis due to inactive phosphorylase AND kinase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
769559012	Glycogen storage disease type X (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core