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


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
3930941000052110 glykogeninlagringssjukdom orsakad av brist på surt maltas, med sen debut sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

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

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