Preferred Label : Glycogen storage disease due to glucose-6-phosphate system deficiency;
ICD-11 definition : Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease,
(GSD), type 1, is a group of inherited metabolic diseases, including types a and b
(see these terms), and characterized by poor tolerance to fasting, growth retardation
and hepatomegaly resulting from accumulation of glycogen and fat in the liver.;
ICD-11 synonym : glycogen storage disease of liver and kidney; Glycogenosis type 1; hepatorenal glycogen storage disease; Glycogen storage disease type 1; GSD type 1; HERS - [hepatorenal glycogen storage disease]; Von Gierke disease; Hepatorenal glycogenosis;
ICD-11 acronym : HERS;
ICD-11 inclusion : glucose-6-phosphate dehydrogenase deficiency; deficiency of g-6pd; g6pd - glucose-6-phosphate dehydrogenase deficiency;
Origin ID : 523888904;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- False automatic mappings
Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease,
(GSD), type 1, is a group of inherited metabolic diseases, including types a and b
(see these terms), and characterized by poor tolerance to fasting, growth retardation
and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
