Glycogen Storage Disease Type Ib

Preferred Label : Glycogen Storage Disease Type Ib;

NCIt synonyms : Glycogen Storage Disease Type I non-a;

NCIt definition : Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate translocase. It may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers.;

Details

Origin ID

C122661;

UMLS CUI

C0268146;

Currated CISMeF NLP mapping
- Glucose-6-phosphate transport defect (disorder) [SNOMED CT concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphate transport defect [ICD-11 More detail]
- Glycogen storage disease ib [OMIM Phenotype]
- Glycogen storage disease type IB [MedDRA LLT]
- glucose-6-phosphate transport defect [SNOMED Notion]
- glycogen storage disease 1b [Disease (Nov.)]
- glycogen storage disease IB [MeSH concept]
- glycogen storage disease IB [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glucose-6-phosphate transport defect (disorder) [SNOMED CT concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphate transport defect [ICD-11 More detail]
- Glycogen storage disease ib [OMIM Phenotype]
- Glycogen storage disease type IB [MedDRA LLT]
- glucose-6-phosphate transport defect [SNOMED Notion]
- glycogen storage disease 1b [Disease (Nov.)]
- glycogen storage disease IB [MeSH Supplementary Concept]
- glycogen storage disease IB [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
- SLC37A4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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