722302009: Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset
\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, infantile onset

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331990013 Glycogen storage disease due to acid maltase deficiency, infantile onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331991012 Glycogenosis due to acid maltase deficiency, infantile onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331992017 Glycogenosis type II, infantile onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3331993010 Pompe disease, infantile onset en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3334442014 Glycogen storage disease type II infantile onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5247932012 Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331988012 Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3332474015 Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterised by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3916301000052117 glygogeninlagringssjukdom hos spädbarn orsakad av brist på surt maltas 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 storage disease due to acid maltase deficiency, infantile onset	Is a	Glycogen storage disease due to acid maltase deficiency	true	Inferred relationship	Some
Glycogen storage disease due to acid maltase deficiency, infantile onset	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease due to acid maltase deficiency, infantile onset	Due to	Deficiency of glucan 1,4-alpha-glucosidase	true	Inferred relationship	Some	2

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
3331990013	Glycogen storage disease due to acid maltase deficiency, infantile onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331991012	Glycogenosis due to acid maltase deficiency, infantile onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331992017	Glycogenosis type II, infantile onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331993010	Pompe disease, infantile onset	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3334442014	Glycogen storage disease type II infantile onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5247932012	Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331988012	Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332474015	Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterised by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3916301000052117	glygogeninlagringssjukdom hos spädbarn orsakad av brist på surt maltas	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)