419097006: Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\...

\Myocardial finding\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)

\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)

\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\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Myocardial finding\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease (disorder)\Cardiomyopathy (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Is a	Cardiomyopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Is a	Glycogen storage disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Finding site	Myocardium structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Is a	X-linked recessive hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
2577707016	Danon disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634468019	Glycogenosis due to LAMP-2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4634469010	Lysosomal glycogen storage disease with normal acid maltase activity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634470011	Glycogen storage disease due to LAMP-2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5223350017	Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5223351018	Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2574361014	Danon disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2574361014	Danon disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2574361014	Danon disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2577707016	Danon disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2577707016	Danon disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2577707016	Danon disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634468019	Glycogenosis due to LAMP-2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4634469010	Lysosomal glycogen storage disease with normal acid maltase activity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634470011	Glycogen storage disease due to LAMP-2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5223350017	Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5223351018	Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444921001000117	Glykogenose durch LAMP-2-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
147981000077112	maladie de Danon	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
147981000077112	maladie de Danon	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444921001000117	Glykogenose durch LAMP-2-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module