phosphoglycerate kinase 1 deficiency

Preferred Label : phosphoglycerate kinase 1 deficiency;

MeSH note : mutation in PGK1;

MeSH synonym : PGK1 deficiency; PGK deficiency; phosphoglycerate kinase deficiency;

Details

Origin ID

C567067;

UMLS CUI

C1970848;

Automatic exact mappings (from CISMeF team)
- Deficiency of phosphoglycerate kinase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ICD-11 More detail]
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ORDO Disease]
- Phosphoglycerate Kinase 1 Deficiency [NCIt concept]
- Phosphoglycerate kinase 1 deficiency [OMIM Phenotype]
- phosphoglycerate kinase 1 deficiency [DO Concept]
DO Cross reference
- phosphoglycerate kinase 1 deficiency [DO Concept]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
- phosphoglycerate kinase [MeSH Descriptor]
Record concept(s)
- phosphoglycerate kinase 1 deficiency [MeSH concept]
See also inter- (CISMeF)
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ORDO Disease]
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency [ICD-11 More detail]
- Phosphoglycerate Kinase 1 Deficiency [NCIt concept]
- Phosphoglycerate kinase 1 deficiency [OMIM Phenotype]
- phosphoglycerate kinase 1 deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients