297253000: Cardiac glycogen phosphorylase kinase deficiency (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Viscus structure finding (finding)\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Cardiac glycogen phosphorylase kinase deficiency

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Finding of trunk structure\Liver finding\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Cardiac glycogen phosphorylase kinase deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Cardiac glycogen phosphorylase kinase deficiency

\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac glycogen phosphorylase kinase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Cardiac glycogen phosphorylase kinase deficiency
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Cardiac glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Cardiac glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac glycogen phosphorylase kinase deficiency
\Disease\Disorder of trunk (disorder)\Disease of liver\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Cardiac glycogen phosphorylase kinase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Cardiac glycogen phosphorylase kinase deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen phosphorylase kinase deficiency\Glycogen phosphorylase kinase deficiency, autosomal recessive\Cardiac glycogen phosphorylase kinase deficiency

Status: current. Date: 31-Jan 2002

Descriptions:

Id Description Lang Type Status Case? Module

437742010 Cardiac glycogen phosphorylase kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
692565015 Cardiac glycogen phosphorylase kinase 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
Cardiac glycogen phosphorylase kinase deficiency	Is a	Glycogen phosphorylase kinase deficiency, autosomal recessive	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Cardiac glycogen phosphorylase kinase deficiency	Is a	Heart disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Cardiac glycogen phosphorylase kinase deficiency	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Cardiac glycogen phosphorylase kinase deficiency	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Cardiac glycogen phosphorylase kinase deficiency	Finding site	Heart structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
437742010	Cardiac glycogen phosphorylase kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
692565015	Cardiac glycogen phosphorylase kinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core