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7265005: Glycogen storage disease, type I (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 I

\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 I
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\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\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\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\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Glycogen storage disease, hepatic form\Glycogen storage disease, type I
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\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\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\Glycogen storage disease, hepatic form\Glycogen storage disease, type I

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 I	Is a	Glycogen storage disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Is a	Congenital anomaly of liver	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease, type I	Finding site	Digestive organ structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease, type I	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease, type I	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Finding site	Liver structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease, type I	Is a	Congenital anomaly of skeletal muscle (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease, type I	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease, type I	Is a	Congenital anomaly of trunk	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Is a	Glycogen storage disease, hepatic form	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Is a	Congenital anomaly of digestive organ (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Is a	Congenital anomaly of abdomen	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Is a	Congenital anomaly of body cavity	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Is a	Lesion of liver (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease, type I	Finding site	Liver structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glycogen storage disease, type I	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycogen storage disease type Ia (disorder)	Is a	True	Glycogen storage disease, type I	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate transport defect	Is a	True	Glycogen storage disease, type I	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

GB English

US English

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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
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
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
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	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)	Active	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	Only initial character case insensitive (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)	Active	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	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
3428741001000117	Glykogenose Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4412731000241110	glycogénose de type I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4412731000241110	glycogénose de type I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428741001000117	Glykogenose Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module