glycogen storage disease, type iii - CISMeF

CISMeF

chu

Glycogen storage disease, type iiiSNOMED Notion

Preferred Label : glycogen storage disease, type iii;

Détails

Origin ID

D6-50320;

UMLS CUI

C0017922;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogenosis III Forbes Cori [PASCAL descriptor]
- amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [ORDO Gene]
- amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [HGNC gene]
- glycogen storage disease III [DO Concept]
- glycogen storage disease type i [MeSH Descriptor]
- glycogen storage disease type ii [MeSH Descriptor]
Currated CISMeF NLP mapping
- Debrancher deficiency [MedDRA LLT]
- Forbes' disease [MedDRA LLT]
- Glycogen Storage Disease Type III [NCIt concept]
- Glycogen storage disease III [OMIM Phenotype]
- Glycogen storage disease due to glycogen debranching enzyme deficiency [ORDO Disease]
- Glycogen storage disease due to glycogen debranching enzyme deficiency [ICD-11 More detail]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
- glycogen storage disease type 3 [Disease (Nov.)]
- glycogen storage disease type III [MeSH concept]
- glycogen storage disease type iii [MeSH Descriptor]
ICD-10 exact mapping(s)
- Glycogen storage disease [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- amylo-1,6-glucosidase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
- glycogen, nos [SNOMED Notion]
SNOMED CT concept
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Debrancher deficiency [MedDRA LLT]
- Forbes' disease [MedDRA LLT]
- Glycogen Storage Disease Type III [NCIt concept]
- Glycogen storage disease III [OMIM Phenotype]
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form [ORDO Disease]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
- glycogen storage disease III [DO Concept]
- glycogen storage disease type 3 [Disease (Nov.)]
- glycogen storage disease type III [MeSH concept]
- glycogen storage disease type iii [MeSH Descriptor]

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31/07/2025

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