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722343009: Glycogen storage disease type II late onset (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331996019 Glycogen storage disease type II late onset (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3331997011 Glycogen storage disease type II late onset en Synonym Active Initial character case insensitive SNOMED CT core
3331998018 Glycogen storage disease due to acid maltase deficiency, late-onset en Synonym Active Case insensitive SNOMED CT core
3331999014 Alpha-1,4-glucosidase acid deficiency, late onset en Synonym Active Case insensitive SNOMED CT core
3332000015 Glycogenosis type II, late onset en Synonym Active Initial character case insensitive SNOMED CT core
3332001016 Pompe disease, late onset en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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