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29633007: Glycogen storage disease (disorder)


Status: current, 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
414351000241115 maladie de stockage du glycogène (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
484344015 GSD - Glycogen storage disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
49567015 Glycogen storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
49570016 Glycogenosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
50010981000188117 glycogénose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
760549016 Glycogen storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
898561000172118 maladie de stockage du glycogène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
955581000172118 GSD - glycogen storage disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


44 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
maladie de stockage du glycogène (trouble) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) Enzymopathy false Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) Congenital anomaly of trunk false Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) Disorder of carbohydrate metabolism true Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) Congenital anomaly of digestive system false Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) troubles métaboliques et génétiques affectant le foie false Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) Storage disease true Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) myopathie d'origine métabolique (trouble) false Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) Congenital anomaly of skeletal muscle false Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
maladie de stockage du glycogène (trouble) localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
maladie de stockage du glycogène (trouble) localisation d'une constatation (attribut) foie false Inferred relationship Some
maladie de stockage du glycogène (trouble) survenue (attribut) congénital true Inferred relationship Some 1
maladie de stockage du glycogène (trouble) localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Polyglucosan body myopathy type 1 (disorder) est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder) est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Hypertrophic cardiomyopathy due to glycogen storage disease Due to True maladie de stockage du glycogène (trouble) Inferred relationship Some 2
Muscle and heart glycogen synthase deficiency (disorder) est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Cardiac glycogenosis est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Dilated cardiomyopathy due to glycogen storage disease (disorder) Due to True maladie de stockage du glycogène (trouble) Inferred relationship Some 2
Glycogen storage disease due to lactate dehydrogenase deficiency est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease due to aldolase A deficiency (disorder) est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Polyglucosan body myopathy type 2 est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Due to True maladie de stockage du glycogène (trouble) Inferred relationship Some 2
Glycogen storage disease, muscular form est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Branching-transferase deficiency glycogenosis est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glucose-6-phosphate transport defect est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease type X est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease, type IX est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease type VIII est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease, type V (disorder) est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Dilated cardiomyopathy due to glycogen storage disease (disorder) est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease, hepatic form est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogenosis with glucoaminophosphaturia est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Restrictive cardiomyopathy secondary to glycogen storage disease est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease type III est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Dilated cardiomyopathy due to glycogen storage disease (disorder) associé à (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some 2
maladie de Danon est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease, type VII est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Generalised glycogenosis est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Other specified glycogenosis (disorder) est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogenosis NOS est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Restrictive cardiomyopathy secondary to glycogen storage disease associé à (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some 2
Fatal congenital nonlysosomal heart glycogenosis (disorder) est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Muscle phosphofructokinase deficiency est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease type IX (disorder) est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen synthase deficiency est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Phosphate transport defect est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glucose transport defect est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease type II est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Hepatic glycogen phosphorylase deficiency est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Pulmonary interstitial glycogenosis est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Periodontitis co-occurrent with glycogen storage disease (disorder) est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Family history of glycogen storage disease (situation) constatation associée (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some 1
Glycogen storage disease, type IV est un(e) (attribut) False maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Adult polyglucosan body disease (disorder) est un(e) (attribut) True maladie de stockage du glycogène (trouble) Inferred relationship Some
Glycogen storage disease due to acid maltase deficiency est un(e) (attribut) True maladie de stockage du glycogène (trouble) 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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