6075009: Glycogen storage disease, hepatic form (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form

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

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

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

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

11092017 Glycogen storage disease, hepatic form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

799737017 Glycogen storage disease, hepatic form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3443421000052119 glykogeninlagringssjukdom, leverform sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease, hepatic form	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen storage disease, hepatic form	Is a	Congenital anomaly of liver	false	Inferred relationship	Some
Glycogen storage disease, hepatic form	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease, hepatic form	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Glycogen storage disease, hepatic form	Finding site	Digestive organ structure	false	Inferred relationship	Some	1
Glycogen storage disease, hepatic form	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glycogen storage disease, hepatic form	Finding site	Liver structure	true	Inferred relationship	Some	2
Glycogen storage disease, hepatic form	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Glycogen storage disease, hepatic form	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some	1
Glycogen storage disease, hepatic form	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Glycogen storage disease, hepatic form	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Glycogen storage disease, hepatic form	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Glycogen storage disease, hepatic form	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycogen storage disease, type VI	Is a	True	Glycogen storage disease, hepatic form	Inferred relationship	Some
Glycogen storage disease, type IV	Is a	True	Glycogen storage disease, hepatic form	Inferred relationship	Some
Glycogen storage disease type X	Is a	True	Glycogen storage disease, hepatic form	Inferred relationship	Some
glykogeninlagringssjukdom typ 9	Is a	False	Glycogen storage disease, hepatic form	Inferred relationship	Some
Glycogen storage disease type VIII	Is a	True	Glycogen storage disease, hepatic form	Inferred relationship	Some
Glycogen storage disease type III	Is a	True	Glycogen storage disease, hepatic form	Inferred relationship	Some
Glycogen storage disease, type I	Is a	True	Glycogen storage disease, hepatic form	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
11092017	Glycogen storage disease, hepatic form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
799737017	Glycogen storage disease, hepatic form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3443421000052119	glykogeninlagringssjukdom, leverform	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)