FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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
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

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 Some
Glycogen storage disease Is a Enzymopathy false Inferred relationship Some
Glycogen storage disease Is a Congenital anomaly of trunk false Inferred relationship Some
Glycogen storage disease Is a Disorder of carbohydrate metabolism true Inferred relationship Some
Glycogen storage disease Is a Congenital anomaly of digestive system false Inferred relationship Some
Glycogen storage disease Is a Metabolic and genetic disorder affecting the liver false Inferred relationship Some
Glycogen storage disease Is a Storage disease true Inferred relationship Some
Glycogen storage disease Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Glycogen storage disease Is a Metabolic myopathy false Inferred relationship Some
Glycogen storage disease Is a Congenital anomaly of skeletal muscle false Inferred relationship Some
Glycogen storage disease Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Glycogen storage disease Finding site Liver structure false Inferred relationship Some
Glycogen storage disease Occurrence Congenital true Inferred relationship Some 1
Glycogen storage disease Finding site Skeletal muscle structure false Inferred relationship Some
Glycogen storage disease Finding site Body system structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Branching-transferase deficiency glycogenosis Is a False Glycogen storage disease Inferred relationship Some
Muscle phosphofructokinase deficiency Is a False Glycogen storage disease Inferred relationship Some
Glycogen phosphorylase kinase deficiency Is a True Glycogen storage disease Inferred relationship Some
Glycogen synthase deficiency Is a True Glycogen storage disease Inferred relationship Some
Phosphate transport defect Is a True Glycogen storage disease Inferred relationship Some
Glucose transport defect Is a True Glycogen storage disease Inferred relationship Some
Lysosomal alpha-1,4-glucosidase deficiency Is a False Glycogen storage disease Inferred relationship Some
Hepatic glycogen phosphorylase deficiency Is a False Glycogen storage disease Inferred relationship Some
Glycogen storage disease, type IV Is a False Glycogen storage disease Inferred relationship Some
Glycogen storage disease, type II (disorder) Is a True Glycogen storage disease Inferred relationship Some
Glycogen storage disease, muscular form Is a True Glycogen storage disease Inferred relationship Some
Glucose-6-phosphate transport defect Is a False Glycogen storage disease Inferred relationship Some
Glycogen storage disease type X Is a False Glycogen storage disease Inferred relationship Some
Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase Is a True Glycogen storage disease Inferred relationship Some
Glycogen storage disease, type IX Is a False Glycogen storage disease Inferred relationship Some
Glycogen storage disease type VIII Is a False Glycogen storage disease Inferred relationship Some
Glycogen storage disease, type V Is a False Glycogen storage disease Inferred relationship Some
Dilated cardiomyopathy due to glycogen storage disease (disorder) Is a False Glycogen storage disease Inferred relationship Some
Glycogen storage disease, hepatic form Is a True Glycogen storage disease Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a True Glycogen storage disease Inferred relationship Some
Restrictive cardiomyopathy secondary to glycogen storage disease Is a False Glycogen storage disease Inferred relationship Some
Glycogen storage disease type III Is a False Glycogen storage disease Inferred relationship Some
Glycogen storage disease, type I Is a False Glycogen storage disease Inferred relationship Some
Glycogen storage disease, type VII Is a False Glycogen storage disease Inferred relationship Some
Generalised glycogenosis Is a True Glycogen storage disease Inferred relationship Some
Other specified glycogenosis Is a False Glycogen storage disease Inferred relationship Some
Glycogenosis NOS Is a False Glycogen storage disease Inferred relationship Some
Dilated cardiomyopathy due to glycogen storage disease (disorder) Associated with False Glycogen storage disease Inferred relationship Some 2
Danon disease Is a True Glycogen storage disease Inferred relationship Some
Restrictive cardiomyopathy secondary to glycogen storage disease Associated with True Glycogen storage disease Inferred relationship Some 2
Fatal congenital nonlysosomal heart glycogenosis (disorder) Is a True Glycogen storage disease Inferred relationship Some
Pulmonary interstitial glycogenosis Is a True Glycogen storage disease Inferred relationship Some
Periodontitis co-occurrent with glycogen storage disease Is a False Glycogen storage disease Inferred relationship Some
Family history of glycogen storage disease (situation) Associated finding True Glycogen storage disease Inferred relationship Some 1
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) Is a True Glycogen storage disease Inferred relationship Some
Adult polyglucosan body disease (disorder) Is a True Glycogen storage disease Inferred relationship Some
Polyglucosan body myopathy type 1 (disorder) Is a True Glycogen storage disease Inferred relationship Some
Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder) Is a True Glycogen storage disease Inferred relationship Some
Hypertrophic cardiomyopathy due to glycogen storage disease Due to True Glycogen storage disease Inferred relationship Some 2
Muscle and heart glycogen synthase deficiency (disorder) Is a True Glycogen storage disease Inferred relationship Some
Cardiac glycogenosis Is a True Glycogen storage disease Inferred relationship Some
Dilated cardiomyopathy due to glycogen storage disease (disorder) Due to True Glycogen storage disease Inferred relationship Some 2
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Glycogen storage disease Inferred relationship Some
Glycogen storage disease due to aldolase A deficiency (disorder) Is a True Glycogen storage disease Inferred relationship Some
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Is a True Glycogen storage disease Inferred relationship Some
Polyglucosan body myopathy type 2 Is a True Glycogen storage disease Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Glycogen storage disease Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Due to True Glycogen storage disease Inferred relationship Some 2

This concept is not in any reference sets

Back to Start