274864009: glycogeenstapelingsziekte type II (aandoening)

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

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to acid maltase deficiency

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

410733010 Glycogen heart disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2765038013 Glycogen storage disease, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3297533010 Pompe's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3297616011 Pompe disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331980017 Glycogen storage disease due to acid maltase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331981018 Alpha-1,4-glucosidase acid deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331982013 Glycogenosis due to acid maltase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331983015 Glycogenosis type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5247931017 Glycogen storage disease due to acid maltase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6032711000146111 glycogeenstapelingsziekte type II nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6032721000146118 glycogeenstapelingsziekte type II (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7024701000146117 ziekte van Pompe nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3331984014 Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7583821000146111 Dit is een aangeboren erfelijke stofwisselingsziekte waarbij een bepaald enzym ontbreekt, wat ophoping van glycogeen en (afval)stoffen veroorzaakt. De kenmerken zijn verzwakking van de spieren en soms hart- en leveraandoeningen. Het komt in ernstige vorm voor bij pasgeborenen (infantiele vorm), en in minder ernstige vorm bij jeugdigen en volwassenen. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands 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	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen storage disease due to acid maltase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycogen storage disease due to acid maltase deficiency	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Glycogen storage disease due to acid maltase deficiency	Finding site	Liver structure	false	Inferred relationship	Some
Glycogen storage disease due to acid maltase deficiency	Is a	Glycogen storage disease, muscular form	false	Inferred relationship	Some
Glycogen storage disease due to acid maltase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Glycogen storage disease due to acid maltase deficiency	Due to	Deficiency of glucan 1,4-alpha-glucosidase	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycogen storage disease due to acid maltase deficiency, infantile onset	Is a	True	Glycogen storage disease due to acid maltase deficiency	Inferred relationship	Some
Glycogen storage disease due to acid maltase deficiency, late-onset	Is a	True	Glycogen storage disease due to acid maltase deficiency	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)