Glycogen Storage Disease

Preferred Label : Glycogen Storage Disease;

NCIt definition : An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.;

Details

Origin ID

C61272;

UMLS CUI

C0017919;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease II [OMIM Phenotype]
- Glycogen storage disease III [OMIM Phenotype]
- Glycogen storage disease V [OMIM Phenotype]
- Glycogen storage disease X [OMIM Phenotype]
- glycogen storage disease id [MeSH concept]
- glycogen storage disease id [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-11 Subcategory]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogen storage disease [ORDO Disease]
- Glycogen storage disease (disorder) [SNOMED CT concept]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disorder [MedDRA Preferred Term]
- Glycogen storage disorder NOS [MedDRA LLT]
- Glycogenoses [MedDRA LLT]
- Glycogenosis [ICD-9 code]
- Glycogenosis [MedDRA LLT]
- Glycogenosis [PASCAL descriptor]
- glycogen storage disease [Disease (Nov.)]
- glycogen storage disease [DO Concept]
- glycogen storage disease [Artificial nutrition thesaurus concept]
- glycogen storage disease [MeSH Descriptor]
- glycogen storage disease [MeSH concept]
- glycogen storage disease, nos [SNOMED Notion]
- glycogen storage disease, type i [SNOMED Notion]
- glycogen storage diseases [Error of metabolism category]
DO Cross reference
- glycogen storage disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease [ORDO Disease]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-11 Subcategory]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogen storage disease (disorder) [SNOMED CT concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disorder [MedDRA Preferred Term]
- Glycogen storage disorder NOS [MedDRA LLT]
- Glycogenoses [MedDRA LLT]
- Glycogenosis [ICD-9 code]
- Glycogenosis [MedDRA LLT]
- Glycogenosis [PASCAL descriptor]
- glycogen storage disease [DO Concept]
- glycogen storage disease [Disease (Nov.)]
- glycogen storage disease [MeSH concept]
- glycogen storage disease [MeSH Descriptor]
- glycogen storage disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ICD-11 More detail]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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