29291001: Glycogen storage disease, type VI (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 VI

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

\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 VI
\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 VI
\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 VI
\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 VI

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

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

Descriptions:

Id Description Lang Type Status Case? Module

49015012 Glycogen storage disease, type VI en Synonym Active Initial character case insensitive SNOMED CT core
49016013 Hepatic phosphorylase deficiency en Synonym Active Case insensitive SNOMED CT core
49017016 Hers disease en Synonym Active Case insensitive SNOMED CT core
49018014 GSD VI en Synonym Active Case sensitive SNOMED CT core
49019018 Hepatic glycogen phosphorylase deficiency en Synonym Active Case insensitive SNOMED CT core
760169015 Glycogen storage disease, type VI (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 VI	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Glycogen storage disease, type VI	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Glycogen storage disease, type VI	Finding site	Structure of digestive system	false	Inferred relationship	Some	1
Glycogen storage disease, type VI	Is a	Glycogen storage disease, hepatic form	true	Inferred relationship	Some
Glycogen storage disease, type VI	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Glycogen storage disease, type VI	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glycogen storage disease, type VI	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease, type VI	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Glycogen storage disease, type VI	Finding site	Liver structure	true	Inferred relationship	Some	2
Glycogen storage disease, type VI	Finding site	Digestive organ structure	false	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
49015012	Glycogen storage disease, type VI	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
49016013	Hepatic phosphorylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
49017016	Hers disease	en	Synonym	Active	Case insensitive	SNOMED CT core
49018014	GSD VI	en	Synonym	Active	Case sensitive	SNOMED CT core
49019018	Hepatic glycogen phosphorylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
760169015	Glycogen storage disease, type VI (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core