Preferred Label : Glycogen storage disease due to muscle beta-enolase deficiency;
ICD-11 definition : Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to
date and characterized clinically by exercise intolerance and myalgia due to severe
enolase deficiency in muscle.;
ICD-11 synonym : Glycogen storage disease type 13; GSD type 13; Glycogenosis type 13;
Origin ID : 821809975;
UMLS CUI : C2752027;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to
date and characterized clinically by exercise intolerance and myalgia due to severe
enolase deficiency in muscle.
