Glycogen Storage Disease Type XI

Preferred Label : Glycogen Storage Disease Type XI;

NCIt synonyms : Fanconi-Bickel Syndrome; Glycogen Storage Disease Due to GLUT2 Deficiency;

NCIt definition : Glycogen storage disease caused by mutation(s) in the SLC2A2 gene, encoding solute carrier family 2, facilitated glucose transporter member 2. It is characterized by marked proximal renal tubular dysfunction and hepatorenal glycogen accumulation.;

Details

Origin ID

C168998;

UMLS CUI

C3495427;

Currated CISMeF NLP mapping
- Fanconi-Bickel syndrome [ORDO Disease]
- Fanconi-bickel syndrome [OMIM Phenotype]
- Glycogen storage disease XI [OMIM Phenotype]
- Glycogen storage disease due to GLUT2 deficiency [ICD-11 More detail]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ORDO Disease]
- Glycogen storage disease due to lactate dehydrogenase deficiency [ICD-11 More detail]
- Glycogen storage disease due to lactate dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Glycogenosis with glucoaminophosphaturia (disorder) [SNOMED CT concept]
- fanconi bickel syndrome [MeSH concept]
- fanconi syndrome [MeSH Descriptor]
- glycogen storage disease type 11 [Disease (Nov.)]
- glycogenosis with glucoaminophosphaturia [SNOMED Notion]
False automatic mappings
- De Toni-Fanconi syndrome [MedDRA LLT]
- FANCONI SYNDROME [WHO-ART Included Term]
- Fanconi syndrome [MedDRA Preferred Term]
- Fanconi syndrome (disorder) [SNOMED CT concept]
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- Toni-Debre-Fanconi syndrome [MeSH concept]
- fanconi syndrome [MeSH concept]
- fanconi syndrome, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi-Bickel syndrome [ORDO Disease]
- Fanconi-bickel syndrome [OMIM Phenotype]
- fanconi bickel syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC2A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients