41527003: Glycogen storage disease type VIII (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\Glycogen storage disease type VIII

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

\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\Glycogen storage disease type VIII
\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\Glycogen storage disease type VIII
\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\Glycogen storage disease type VIII
\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\Glycogen storage disease type VIII

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

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 storage disease type VIII	Is a	Congenital anomaly of liver	false	Inferred relationship	Some
Glycogen storage disease type VIII	Is a	Glycogen storage disease	false	Inferred relationship	Some
Glycogen storage disease type VIII	Finding site	Digestive organ structure	false	Inferred relationship	Some	2
Glycogen storage disease type VIII	Finding site	Liver structure	true	Inferred relationship	Some	2
Glycogen storage disease type VIII	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Glycogen storage disease type VIII	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glycogen storage disease type VIII	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease type VIII	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Glycogen storage disease type VIII	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Glycogen storage disease type VIII	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some	1
Glycogen storage disease type VIII	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Glycogen storage disease type VIII	Is a	Glycogen storage disease, hepatic form	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
69271013	Glycogen storage disease type VIII	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
69272018	Glycogenosis due to inactive phosphorylase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
69273011	Glycogenosis due to inactive hepatic glycogen phosphorylase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
69274017	GSD VIII	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
778325018	Glycogen storage disease type VIII (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3035516019	Glycogen storage disease type 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core