41527003: Glycogen storage disease type VIII (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 VIII

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

\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 VIII
\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 VIII
\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 VIII
\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 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\Glycogen storage disease, hepatic form\Glycogen storage disease type VIII
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease type VIII
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease type VIII
\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 VIII
\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 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\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease type VIII

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

Descriptions:

Id Description Lang Type Status Case? Module

3035516019 Glycogen storage disease type 8 en Synonym Active Case insensitive SNOMED CT core

69271013 Glycogen storage disease type VIII en Synonym Active Initial character case insensitive SNOMED CT core

69272018 Glycogenosis due to inactive phosphorylase en Synonym Active Case insensitive SNOMED CT core

69273011 Glycogenosis due to inactive hepatic glycogen phosphorylase en Synonym Active Case insensitive SNOMED CT core

69274017 GSD VIII en Synonym Active Case sensitive SNOMED CT core

778325018 Glycogen storage disease type VIII (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 VIII	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Glycogen storage disease type VIII	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Glycogen storage disease type VIII	Finding site	Structure of digestive system	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	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	Is a	Glycogen storage disease, hepatic form	true	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	Developmental abnormality	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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