Glycogen storage disease due to glycogen synthase deficiency

Preferred Label : Glycogen storage disease due to glycogen synthase deficiency;

ICD-11 synonym : Glycogenosis type 0; Glycogen storage disease type 0; deficiency of glycogen synthetase; GSD type 0;

Details

Origin ID

1662745339;

UMLS CUI

C1855861;

Currated CISMeF NLP mapping
- Glycogen storage disease 0, liver [OMIM Phenotype]
- 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.)]
- Hepatic glycogen synthase deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease 0, liver [MeSH concept]
- glycogen storage disease 0, liver [MeSH Supplementary Concept]
- glycogen storage disease type 0 [Disease (Nov.)]
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 [ORDO Disease]
- Glycogen storage disease due to hepatic glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease type 0 liver type [Disease (Nov.)]
- glycogen storage disease 0, liver [MeSH concept]
- glycogen storage disease 0, liver [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Glycogen storage disease due to hepatic glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease type 0 liver type [Disease (Nov.)]
- Glycogen synthase deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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