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274864009: Glycogen storage disease, type II (disorder)

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
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
410733010 Glycogen heart disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
667668013 Glycogen storage disease, type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Glycogen storage disease due to acid maltase deficiency est un(e) (attribut) Glycogen storage disease, muscular form false Inferred relationship Some
Glycogen storage disease due to acid maltase deficiency survenue (attribut) congénital true Inferred relationship Some 1
Glycogen storage disease due to acid maltase deficiency localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some
Glycogen storage disease due to acid maltase deficiency localisation d'une constatation (attribut) foie false Inferred relationship Some
Glycogen storage disease due to acid maltase deficiency est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Glycogen storage disease due to acid maltase deficiency est un(e) (attribut) maladie de stockage du glycogène (trouble) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Glycogen storage disease due to acid maltase deficiency, infantile onset est un(e) (attribut) True Glycogen storage disease due to acid maltase deficiency Inferred relationship Some
Glycogen storage disease type II late onset (disorder) est un(e) (attribut) True Glycogen storage disease due to acid maltase deficiency Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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