Glut1 Deficiency Syndrome

Preferred Label : Glut1 Deficiency Syndrome;

MeSH note : Glut1 Ds not included;

MeSH synonym : glucose transport defect, blood-brain barrier; glucose transporter type1 (GLUT-1) deficiency; GLUT-1 deficiency syndrome; glucose transporter type 1 deficiency syndrome; encephalopathy due to Glut1 deficiency; glucose transporter protein syndrome; De Vivo disease;

Details

Origin ID

C536830;

UMLS CUI

C1847501;

Automatic exact mappings (from CISMeF team)
- Glucose transporter type 1 deficiency syndrome [MedDRA Preferred Term]
- Glut1 deficiency syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Classic glucose transporter type 1 deficiency syndrome [ORDO Disease]
- Encephalopathy due to GLUT1 deficiency [ICD-11 More detail]
- Glucose transporter protein type 1 deficiency syndrome (disorder) [SNOMED CT concept]
- Glut1 deficiency syndrome 1 [OMIM Phenotype]
- glucose transporter type 1 deficiency syndrome [Disease (Nov.)]
MeSH term(s) associated for indexing
- carbohydrate metabolism, inborn errors [MeSH Descriptor]
- monosaccharide transport proteins [MeSH Descriptor]
Record concept(s)
- Glut1 Deficiency Syndrome [MeSH concept]
See also inter- (CISMeF)
- GLUT1 Deficiency Syndrome 1 [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic glucose transporter type 1 deficiency syndrome [ORDO Disease]
- GLUT1 Deficiency Syndrome 1 [NCIt concept]
- Glucose transporter type 1 deficiency syndrome [MedDRA Preferred Term]
- Glut1 deficiency syndrome 1 [OMIM Phenotype]
- glucose transporter type 1 deficiency syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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