FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

29633007: Glycogen storage disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
49567015 Glycogen storage disease en Synonym Active Entire term case insensitive SNOMED CT core module
49568013 Glycogen storage disease, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
49569017 Glycogenosis, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
49570016 Glycogenosis en Synonym Active Entire term case insensitive SNOMED CT core module
484344015 GSD - Glycogen storage disease en Synonym Active Entire term case sensitive SNOMED CT core module
760549016 Glycogen storage disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core 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
Glycogen storage disease Is a Enzymopathy false Inferred relationship Existential restriction modifier
Glycogen storage disease Is a Congenital anomaly of trunk false Inferred relationship Existential restriction modifier
Glycogen storage disease Is a Disorder of carbohydrate metabolism true Inferred relationship Existential restriction modifier
Glycogen storage disease Is a Congenital anomaly of digestive system false Inferred relationship Existential restriction modifier
Glycogen storage disease Is a Metabolic and genetic disorder affecting the liver false Inferred relationship Existential restriction modifier
Glycogen storage disease Is a Storage disease true Inferred relationship Existential restriction modifier
Glycogen storage disease Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier
Glycogen storage disease Is a Metabolic myopathy false Inferred relationship Existential restriction modifier
Glycogen storage disease Is a Congenital anomaly of skeletal muscle false Inferred relationship Existential restriction modifier
Glycogen storage disease Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier
Glycogen storage disease Finding site Liver structure false Inferred relationship Existential restriction modifier
Glycogen storage disease Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Glycogen storage disease Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier
Glycogen storage disease Finding site Body system structure false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Branching-transferase deficiency glycogenosis Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Muscle phosphofructokinase deficiency Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease type IX Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen synthase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Phosphate transport defect Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Glucose transport defect Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Lysosomal alpha-1,4-glucosidase deficiency Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Hepatic glycogen phosphorylase deficiency Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease, type IV Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease, type II Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease, muscular form Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Glucose-6-phosphate transport defect Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease type X Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease, type IX Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease type VIII Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease, type V Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Dilated cardiomyopathy due to glycogen storage disease Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease, hepatic form Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogenosis with glucoaminophosphaturia Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Restrictive cardiomyopathy secondary to glycogen storage disease Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease, type III Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease, type I Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease, type VII Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Generalized glycogenosis Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Other specified glycogenosis Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogenosis NOS Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Dilated cardiomyopathy due to glycogen storage disease Associated with False Glycogen storage disease Inferred relationship Existential restriction modifier 2
Danon disease Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Restrictive cardiomyopathy secondary to glycogen storage disease Associated with True Glycogen storage disease Inferred relationship Existential restriction modifier 2
Fatal congenital nonlysosomal heart glycogenosis Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Pulmonary interstitial glycogenosis Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Periodontitis co-occurrent with glycogen storage disease Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Family history of glycogen storage disease Associated finding True Glycogen storage disease Inferred relationship Existential restriction modifier 1
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Adult polyglucosan body disease Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Polyglucosan body myopathy type 1 Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease due to muscle pyruvate kinase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Hypertrophic cardiomyopathy due to glycogen storage disease Due to True Glycogen storage disease Inferred relationship Existential restriction modifier 2
Muscle and heart glycogen synthase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Cardiac glycogenosis Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Dilated cardiomyopathy due to glycogen storage disease Due to True Glycogen storage disease Inferred relationship Existential restriction modifier 2
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease due to aldolase A deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Polyglucosan body myopathy type 2 Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Glycogen storage disease Inferred relationship Existential restriction modifier
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Due to True Glycogen storage disease Inferred relationship Existential restriction modifier 2
Other specified glycogenosis Is a False Glycogen storage disease Inferred relationship Existential restriction modifier
Glycogenosis NOS Is a False Glycogen storage disease Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start