235908005: Glycogen storage disease type IX (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency

\Digestive system finding (finding)\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Glycogen phosphorylase kinase deficiency
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Glycogen phosphorylase kinase deficiency
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency
\Disease\Metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen phosphorylase kinase deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen phosphorylase kinase deficiency
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen phosphorylase kinase deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

353637017 Glycogen phosphorylase kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

353639019 PHK - Hepatic phosphorylase kinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

353640017 Hepatic phosphorylase kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

353641018 Phosphorylase kinase deficiency of liver en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

353642013 Glycogen storage disease type IX en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

353643015 Glycogenosis viiia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3441358013 Glycogen storage disease type IX (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

844611000052112 brist på glykogenfosforylaskinas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen phosphorylase kinase deficiency	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Finding site	Liver structure	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Is a	Disease of liver	true	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen phosphorylase kinase deficiency	Finding site	Liver structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-bunden brist på glykogenfosforylaskinas	Is a	False	Glycogen phosphorylase kinase deficiency	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	Is a	True	Glycogen phosphorylase kinase deficiency	Inferred relationship	Some
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	Is a	True	Glycogen phosphorylase kinase deficiency	Inferred relationship	Some
Glycogen storage disease type IXB (disorder)	Is a	True	Glycogen phosphorylase kinase deficiency	Inferred relationship	Some

This concept is not in any reference sets