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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
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
484344015 GSD - Glycogen storage disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
760549016 Glycogen storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
49567015 Glycogen storage disease en Synonym (core metadata concept) Active Only initial character case insensitive (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 Only initial character 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
484344015 GSD - Glycogen storage disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
760549016 Glycogen storage disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
760549016 Glycogen storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
422861000274110 Glykogenspeicherkrankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395101001000113 Glykogenose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
898561000172118 maladie de stockage du glycogène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
955581000172118 GSD - glycogen storage disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50010981000188117 glycogénose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
898561000172118 maladie de stockage du glycogène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
955581000172118 GSD - glycogen storage disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50010981000188117 glycogénose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
422861000274110 Glykogenspeicherkrankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395101001000113 Glykogenose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

44 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Glycogen storage disease Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Enzymopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Congenital anomaly of trunk false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Disorder of carbohydrate metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Congenital anomaly of digestive system false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Metabolic and genetic disorder affecting the liver false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Storage disease true Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Metabolic myopathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Congenital anomaly of skeletal muscle (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Finding site Liver structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Glycogen storage disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Branching-transferase deficiency glycogenosis Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Muscle phosphofructokinase deficiency Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen phosphorylase kinase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen synthase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Phosphate transport defect Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glucose transport defect Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Lysosomal alpha-1,4-glucosidase deficiency Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Hepatic glycogen phosphorylase deficiency Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, type IV Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to acid maltase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, muscular form Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glucose-6-phosphate transport defect Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
glycogénose de type X Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, type IX Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease type VIII Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, type V Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Dilated cardiomyopathy due to glycogen storage disease Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, hepatic form Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogenosis with glucoaminophosphaturia Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Restrictive cardiomyopathy secondary to glycogen storage disease (disorder) Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease type III Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, type I Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease, type VII (disorder) Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Generalised glycogenosis Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Other specified glycogenosis Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogenosis NOS Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Dilated cardiomyopathy due to glycogen storage disease Associated with False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Restrictive cardiomyopathy secondary to glycogen storage disease (disorder) Associated with True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Fatal congenital nonlysosomal heart glycogenosis (disorder) Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary interstitial glycogenosis Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Periodontitis co-occurrent with glycogen storage disease Is a False Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Family history of glycogen storage disease (situation) Associated finding True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Adult polyglucosan body disease Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Polyglucosan body myopathy type 1 (disorder) Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to muscle pyruvate kinase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy due to glycogen storage disease Due to True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Cardiac glycogenosis (disorder) Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Dilated cardiomyopathy due to glycogen storage disease Due to True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to aldolase A deficiency (disorder) Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare glycogen storage disease characterised by slowly progressive myopathy with storage of polyglucosan in muscle fibres. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Due to True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Muscle phosphoglycerate mutase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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