Glycogen storage disease

ICD-11 code : 5C51.3;

Preferred Label : Glycogen storage disease;

ICD-11 definition : The term Glycogen storage disease characterises a group of heterogeneous diseases resulting from defects in the process of glycogen synthesis or breakdown within muscles, liver, and other cell types.;

ICD-11 synonym : Glycogen storage disease due to phosphoglucomutase deficiency; Dilated cardiomyopathy due to glycogen branching enzyme deficiency; Glycogen storage disease due to muscle pyruvate kinase deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogen storage disease due to glycogen debranching enzyme deficiency; Glycogen storage disease due to glycogenin deficiency; Glycogen storage disease due to muscle beta-enolase deficiency; Glycogen storage disease due to lactate dehydrogenase deficiency; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to GLUT2 deficiency; Glycogen storage disease due to LAMP-2 deficiency; Glycogen storage disease due to liver glycogen phosphorylase deficiency;

ICD-11 acronym : GSD;

ICD-11 inclusion : Dilated cardiomyopathy due to glycogen branching enzyme deficiency; Glycogen storage disease due to muscle pyruvate kinase deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogen storage disease due to glycogen debranching enzyme deficiency; Glycogen storage disease due to glycogenin deficiency; Glycogen storage disease due to muscle beta-enolase deficiency; Glycogen storage disease due to lactate dehydrogenase deficiency; Glycogen storage disease due to phosphoglucomutase deficiency; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to GLUT2 deficiency; Glycogen storage disease due to LAMP-2 deficiency; Glycogen storage disease due to liver glycogen phosphorylase deficiency;

Details

Origin ID

1187107383;

UMLS CUI

C0017919;

Automatic exact mappings (from CISMeF team)
- Cystic angiomatosis of bone, diffuse [OMIM Phenotype]
- Gerstmann-straussler disease [OMIM Phenotype]
Currated CISMeF NLP mapping
- Glycogen Storage Disease [NCIt concept]
- Glycogen storage disease [ORDO Disease]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogen storage disease [OMIM phenotypic series]
- 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 [PASCAL descriptor]
- Glycogenosis [MedDRA LLT]
- glycogen storage disease [DO Concept]
- glycogen storage disease [MeSH concept]
- glycogen storage disease [MeSH Descriptor]
- glycogen storage disease [Disease (Nov.)]
- glycogen storage disease [Artificial nutrition thesaurus concept]
- glycogen storage disease, nos [SNOMED Notion]
- glycogen storage diseases [Error of metabolism category]
ICD-10 Mapping
- Glycogen storage disease [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease [NCIt concept]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ORDO Disease]
- 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 [MeSH Descriptor]
- glycogen storage disease [MeSH concept]
- glycogen storage disease [Disease (Nov.)]
- glycogen storage disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Glycogen storage disease ia [OMIM Phenotype]
- glycogen storage disease, type i [SNOMED Notion]

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