glycogen storage disease 0, muscle

Preferred Label : glycogen storage disease 0, muscle;

MeSH synonym : muscle glycogen synthase deficiency; muscle glycogen storage disease 0;

Origin ID

C566917;

UMLS CUI

C1969054;

CISMeF manual mappings
- glycogen storage disease type 0 muscle type [Disease (Nov.)]
Currated CISMeF NLP mapping
- Glycogen storage disease 0, muscle [OMIM Phenotype]
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency [ORDO Disease]
MeSH term(s) associated for indexing
- glycogen storage disease [MeSH Descriptor]
- glycogen synthase [MeSH Descriptor]
Record concept(s)
- glycogen storage disease 0, muscle [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease 0, muscle [OMIM Phenotype]
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle or heart glycogen synthase deficiency [ICD-11 More detail]
- glycogen storage disease type 0 muscle type [Disease (Nov.)]
Validated automatic mappings to BTNT
- Glycogen storage disease due to muscle or heart glycogen synthase deficiency [ICD-11 More detail]
- Muscle and heart glycogen synthase deficiency (disorder) [SNOMED CT concept]