7265005: Glycogen storage disease, type I (disorder)

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

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

\Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease, type I
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease, hepatic form\Glycogen storage disease, type I

Status: current. Date: 31-Jan 2002

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease, type I	Is a	Glycogen storage disease, hepatic form	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen storage disease, type I	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen storage disease, type I	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Glycogen storage disease, type I	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glucose-6-phosphate transport defect	Is a	True	Glycogen storage disease, type I	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen storage disease type Ia (disorder)	Is a	True	Glycogen storage disease, type I	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
12994015	Glycogen storage disease, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12995019	Hepatorenal glycogen storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12996018	Glucose-6-phosphatase deficiency	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12997010	von Gierke's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12998017	GSD I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502178014	Liver glycogen disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502179018	von Gierke disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502180015	Glycogen storage disease type Ia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
812951015	Glycogen storage disease, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3037037019	Glycogen storage disease, type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core