Glycogen Storage Disease Type I

Preferred Label : Glycogen Storage Disease Type I;

NCIt definition : An autosomal recessive inherited type of glycogen storage disease. It is characterized by a deficiency of the enzyme glucose-6-phosphatase, resulting in the inability of the liver to produce free glucose causing severe hypoglycemia. There is abnormal accumulation of glycogen in the liver and kidneys.;

Details

Origin ID

C84733;

UMLS CUI

C0017920;

Automatic exact mappings (from CISMeF team)
- Glycogenosis I Von Gierke [PASCAL descriptor]
- glucose-6-phosphatase catalytic subunit 1 [HGNC gene]
- glycogen storage disease type I [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disease ia [OMIM Phenotype]
- 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 I [DO Concept]
- 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]
DO Cross reference
- glycogen storage disease I [DO Concept]
See also inter- (CISMeF)
- glycogen storage disease type 1a [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glucose-6-phosphatase (disorder) [SNOMED CT concept]
- Glucose-6-phosphatase deficiency [MedDRA LLT]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disease type I [MedDRA Preferred Term]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Type I glycogen storage disease [MedDRA LLT]
- Von Gierke's disease [MedDRA LLT]
- glycogen storage disease I [DO Concept]
- 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]
Validated automatic mappings to BTNT
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ICD-11 More detail]
Validated automatic mappings to NTBT
- glycogen storage disease [Disease (Nov.)]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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