235908005: Glycogen storage disease type IX (disorder)

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

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

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

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

Status: current. Date: 31-Jan 2002

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
353638010 Glycogen storage disease VIII en Synonym (core metadata concept) Inactive Only initial character 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
624431011 Glycogen phosphorylase kinase deficiency (disorder) en Fully specified name Inactive Only initial character 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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycogen storage disease type IXB (disorder)	Is a	True	Glycogen phosphorylase kinase deficiency	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	Is a	True	Glycogen phosphorylase kinase deficiency	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen phosphorylase kinase deficiency, autosomal recessive	Is a	True	Glycogen phosphorylase kinase deficiency	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly

This concept is not in any reference sets