Glycogen Storage Disease Type III

Preferred Label : Glycogen Storage Disease Type III;

NCIt definition : An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the glycogen debranching enzyme. It results in the accumulation of structurally abnormal glycogen in the heart, skeletal muscles, and/or liver.;

Details

Origin ID

C84736;

UMLS CUI

C0017922;

Automatic exact mappings (from CISMeF team)
- 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]
Currated CISMeF NLP mapping
- Debrancher deficiency [MedDRA LLT]
- Forbes' disease [MedDRA LLT]
- 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]
- glycogen storage disease, type iii [SNOMED Notion]
DO Cross reference
- glycogen storage disease III [DO 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 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]
- glycogen storage disease, type iii [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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