Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Preferred Label : Glycogen storage disease due to muscle glycogen phosphorylase deficiency;

ICD-11 definition : Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance with myalgia, cramps, fatigue, and muscle weakness.;

ICD-11 synonym : GSD type 5; myophosphorylase deficiency glycogenosis; McArdle disease; Glycogen storage disease type 5; Myophosphorylase deficiency; Glycogenosis type 5;

Details

Origin ID

1934070304;

Currated CISMeF NLP mapping
- Glycogen storage disease V [OMIM Phenotype]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease, type V (disorder) [SNOMED CT concept]
- McArdle's disease [MedDRA LLT]
- McArdles disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- glycogen storage disease V [DO Concept]
- glycogen storage disease type v [MeSH Descriptor]
- glycogen storage disease, type v [SNOMED Notion]

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