11179002: Glycogen storage disease, type IV (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\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 IV
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, muscular form\Glycogen storage disease, type IV
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease, hepatic form\Glycogen storage disease, type IV
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Glycogen storage disease, muscular form\Glycogen storage disease, type IV

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

19358010 Glycogen storage disease, type IV en Synonym Active Only initial character case insensitive SNOMED CT core module

19359019 1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

19360012 Brancher deficiency glycogen storage disease en Synonym Active Entire term case sensitive SNOMED CT core module

19361011 Amylopectinosis en Synonym Active Entire term case insensitive SNOMED CT core module

19362016 Andersen's disease en Synonym Active Entire term case sensitive SNOMED CT core module

19363014 GSD IV en Synonym Active Entire term case sensitive SNOMED CT core module

19364015 Branching-transferase deficiency glycogenosis en Synonym Active Entire term case insensitive SNOMED CT core module

633546018 Glycogen storage disease, type IV (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1495567017 Branching enzyme deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

1495568010 Glycogen storage disease type IV en Synonym Active Only initial character case insensitive SNOMED CT core module

1495569019 Andersen disease en Synonym Active Entire term case sensitive SNOMED CT core module

1495570018 Glycogenosis, type 4 en Synonym Active Entire term case insensitive SNOMED CT core module

3036842018 Glycogen storage disease, type 4 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease, type IV	Is a	Glycogen storage disease	false	Inferred relationship	Existential restriction modifier
Glycogen storage disease, type IV	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Glycogen storage disease, type IV	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	3
Glycogen storage disease, type IV	Finding site	Liver structure	true	Inferred relationship	Existential restriction modifier	1
Glycogen storage disease, type IV	Is a	Glycogen storage disease, hepatic form	true	Inferred relationship	Existential restriction modifier
Glycogen storage disease, type IV	Is a	Glycogen storage disease, muscular form	true	Inferred relationship	Existential restriction modifier
Glycogen storage disease, type IV	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
19358010	Glycogen storage disease, type IV	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
19359019	1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
19360012	Brancher deficiency glycogen storage disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
19361011	Amylopectinosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
19362016	Andersen's disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
19363014	GSD IV	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
19364015	Branching-transferase deficiency glycogenosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
633546018	Glycogen storage disease, type IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1495567017	Branching enzyme deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1495568010	Glycogen storage disease type IV	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1495569019	Andersen disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1495570018	Glycogenosis, type 4	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3036842018	Glycogen storage disease, type 4	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module