29633007: Glycogen storage disease (disorder)

Descriptions:

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	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 storage disease type IX (disorder)	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
A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.	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
glycogénose de 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
A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.	Is a	True	Glycogen storage disease	Inferred relationship	Some
A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE).	Is a	True	Glycogen storage disease	Inferred relationship	Some
Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.	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
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	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 is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.	Is a	True	Glycogen storage disease	Inferred relationship	Some
A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.	Is a	True	Glycogen storage disease	Inferred relationship	Some
A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. 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	Some
A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.	Is a	True	Glycogen storage disease	Inferred relationship	Some
A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.	Due to	True	Glycogen storage disease	Inferred relationship	Some	2
Muscle phosphoglycerate mutase deficiency	Is a	True	Glycogen storage disease	Inferred relationship	Some

This concept is not in any reference sets

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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
1835191000195114	malattia da accumulo di glicogeno	it	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
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