Preferred Label : Glycogen storage disease due to glucose-6-phosphate transport defect;
ICD-11 definition : Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage
disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency that may manifest
at birth by enlarged liver or, more commonly, between the ages of three to four months
by symptoms of fast-induced hypoglycemia (tremors, seizures, cyanosis, and apnea)
as a result of disturbed glucose homeostasis .;
ICD-11 synonym : Glycogen storage disease type non-1A; Glycogen storage disease type 1B; GSD1B; Glycogenosis type non-1A; Glycogenosis type 1B; Glycogen storage disease due to glucose-6-phosphate translocase deficiency;
Origin ID : 1944306590;
UMLS CUI : C0268146;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage
disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency that may manifest
at birth by enlarged liver or, more commonly, between the ages of three to four months
by symptoms of fast-induced hypoglycemia (tremors, seizures, cyanosis, and apnea)
as a result of disturbed glucose homeostasis .
