Glycogen storage disease due to glucose-6-phosphatase deficiency

Preferred Label : Glycogen storage disease due to glucose-6-phosphatase deficiency;

ICD-11 definition : Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency associating the clinical features of glycogenosis due to G6P deficiency type a to neutropenia, and neutrophil dysfunction that are responsible for tendency towards infections, relapsing aphthous gingivostomatitis, and inflammatory bowel disease.;

ICD-11 synonym : Glycogen storage disease type 1A; GSD type 1A; Glycogenosis type 1A;

ICD-11 inclusion : glucose-6-phosphatase deficiency;

Details

Origin ID

377675277;

Currated CISMeF NLP mapping
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia [ORDO Disease]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disease type IA [MedDRA LLT]
- Glycogen storage disease type Ia (disorder) [SNOMED CT concept]
- Von Gierke's disease [MedDRA LLT]
- glycogen storage disease type 1a [Disease (Nov.)]
- hepatorenal form of glycogen storage disease [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Deficiency of glucose-6-phosphatase (disorder) [SNOMED CT concept]
- Glucose-6-phosphatase deficiency [MedDRA LLT]
- Glycogen Storage Disease [NCIt concept]
- Glycogen Storage Disease Type I [NCIt concept]
- Glycogen storage disease type I [MedDRA Preferred Term]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Type I glycogen storage disease [MedDRA LLT]
- glycogen storage disease [MeSH concept]
- glycogen storage disease [MeSH Descriptor]
- glycogen storage disease type 1 [Disease (Nov.)]
- glycogen storage disease type I [MeSH concept]
- glycogen storage disease type i [MeSH Descriptor]
- glycogen storage disease, type i [SNOMED Notion]

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