722343009: Glycogen storage disease due to acid maltase deficiency, late-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, late-onset

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease due to acid maltase deficiency\Glycogen storage disease due to acid maltase deficiency, late-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, late-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, late-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, late-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

3331997011 Glycogen storage disease type II late onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3331998018 Glycogen storage disease due to acid maltase deficiency, late-onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331999014 Alpha-1,4-glucosidase acid deficiency, late onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332000015 Glycogenosis type II, late onset en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3332001016 Pompe disease, late onset en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5247937018 Glycogen storage disease due to acid maltase deficiency, late-onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332002011 Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3332003018 Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterised by an accumulation of glycogen in lysosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12748471000172118 glycogénose par déficit en maltase acide d'apparition tardive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12748481000172115 glycogénose de type II d'apparition tardive fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12748491000172117 maladie du stockage du glycogène de type II à début tardif fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4561781000172117 laat optredende glycogeenstapelingsziekte type II nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease due to acid maltase deficiency, late-onset	Is a	Glycogen storage disease due to acid maltase deficiency	true	Inferred relationship	Some
Glycogen storage disease due to acid maltase deficiency, late-onset	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease due to acid maltase deficiency, late-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
3331997011	Glycogen storage disease type II late onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331998018	Glycogen storage disease due to acid maltase deficiency, late-onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331999014	Alpha-1,4-glucosidase acid deficiency, late onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332000015	Glycogenosis type II, late onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3332001016	Pompe disease, late onset	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5247937018	Glycogen storage disease due to acid maltase deficiency, late-onset (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332002011	Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332003018	Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterised by an accumulation of glycogen in lysosomes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12748471000172118	glycogénose par déficit en maltase acide d'apparition tardive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12748481000172115	glycogénose de type II d'apparition tardive	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
12748491000172117	maladie du stockage du glycogène de type II à début tardif	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4561781000172117	laat optredende glycogeenstapelingsziekte type II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)