glycogen storage disease 0, liver

Preferred Label : glycogen storage disease 0, liver;

MeSH synonym : liver glycogen synthase deficiency; liver glycogen storage disease 0; hypoglycemia with deficiency of glycogen synthetase in the liver;

Détails

Origin ID

C565485;

UMLS CUI

C1855861;

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

Position du mot-clé dans l'(les) arborescence(s) :

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