dimauro disease

Preferred Label : dimauro disease;

MeSH synonym : myopathy due to phosphoglycerate mutase deficiency; PGAMM deficiency; human muscle phosphoglycerate mutase deficiency; glycogen storage disease X; phosphoglycerate mutase, muscle, deficiency of; pgam deficiency; phosphoglycerate mutase deficiency; deficiency mutase phosphoglycerate; gsd X; Gsd10;

Details

Origin ID

C536176;

UMLS CUI

C0268149;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease due to muscle phosphoglycerate mutase deficiency [ICD-11 More detail]
CISMeF manual mappings
- glycogen storage disease type 10 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Glycogen storage disease X [OMIM Phenotype]
- Glycogen storage disease due to phosphoglycerate mutase deficiency [ORDO Disease]
- Glycogen storage disease type X (disorder) [SNOMED CT concept]
- Muscle phosphoglycerate mutase deficiency (disorder) [SNOMED CT concept]
- Phosphoglycerate Mutase Deficiency [NCIt concept]
- glycogen storage disease type x [SNOMED Notion]
- muscle phosphoglycerate mutase deficiency [SNOMED Notion]
MeSH term(s) associated for indexing
- kidney diseases [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
- phosphoglycerate mutase [MeSH Descriptor]
Record concept(s)
- Dimauro disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease X [OMIM Phenotype]
- Glycogen storage disease due to phosphoglycerate mutase deficiency [ORDO Disease]
- Glycogen storage disease type X (disorder) [SNOMED CT concept]
- Muscle phosphoglycerate mutase deficiency (disorder) [SNOMED CT concept]
- Phosphoglycerate Mutase Deficiency [NCIt concept]
- glycogen storage disease type 10 [Disease (Nov.)]
- glycogen storage disease type x [SNOMED Notion]
- muscle phosphoglycerate mutase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients