237964009: Glycogen synthase deficiency (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\Glycogen synthase deficiency

\Finding of trunk structure\Liver finding\Disease of liver\Glycogen synthase deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Glycogen synthase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen synthase deficiency
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen synthase deficiency
\Disease\Disorder of body system\Disease of liver\Glycogen synthase deficiency
\Disease\Disorder of trunk (disorder)\Disease of liver\Glycogen synthase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen synthase deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen synthase deficiency

Status: current. Date: 31-Jan 2002

Descriptions:

Id Description Lang Type Status Case? Module

356651013 Glycogen synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
356652018 Glycogen storage disease type 0 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626775011 Glycogen synthase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen synthase deficiency	Is a	Disorder of carbohydrate metabolism	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen synthase deficiency	Is a	Disease of liver	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen synthase deficiency	Is a	Storage disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen synthase deficiency	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Glycogen synthase deficiency	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Glycogen synthase deficiency	Finding site	Skeletal muscle structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hepatic glycogen synthase deficiency (disorder)	Is a	True	Glycogen synthase deficiency	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly

This concept is not in any reference sets