Preferred Label : Glycogen storage disease due to glycogen phosphorylase kinase deficiency;
ICD-11 definition : Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of
inborn errors of glycogen metabolism that is clinically and genetically heterogeneous.
This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due
to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these
terms).;
ICD-11 synonym : GSD due to phosphorylase kinase deficiency; Glycogenosis due to phosphorylase kinase deficiency;
ICD-11 inclusion : GSD9; GSD8; Glycogenosis type 8; Glycogen storage disease type 8; Glycogenosis type 9; Glycogen storage disease type 9;
Origin ID : 1544583473;
UMLS CUI : C0268147;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of
inborn errors of glycogen metabolism that is clinically and genetically heterogeneous.
This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due
to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these
terms).
