Glycogen storage disease due to muscle phosphofructokinase deficiency

Preferred Label : Glycogen storage disease due to muscle phosphofructokinase deficiency;

ICD-11 definition : Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance, with onset in childhood.;

ICD-11 synonym : Muscle phosphofructokinase deficiency; Tarui disease; Glycogen storage disease type 7; GSD type 7; Glycogenosis type 7;

Details

Origin ID

1985620430;

UMLS CUI

C0017926;

Currated CISMeF NLP mapping
- Glycogen Storage Disease Type VII [NCIt concept]
- Glycogen storage disease VII [OMIM Phenotype]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ORDO Disease]
- Glycogen storage disease type VII [MedDRA Preferred Term]
- Glycogen storage disease, type VII (disorder) [SNOMED CT concept]
- Muscle phosphofructokinase deficiency (disorder) [Inactive SNOMED CT concept]
- Tarui disease [MedDRA LLT]
- glycogen storage disease VII [DO Concept]
- glycogen storage disease type 7 [Disease (Nov.)]
- glycogen storage disease type VII [MeSH concept]
- glycogen storage disease type vii [MeSH Descriptor]
- glycogen storage disease, type vii [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease Type VII [NCIt concept]
- Glycogen storage disease VII [OMIM Phenotype]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ORDO Disease]
- Glycogen storage disease type VII [MedDRA Preferred Term]
- Glycogen storage disease, type VII (disorder) [SNOMED CT concept]
- Glycogenosis type VII [MedDRA LLT]
- Muscle phosphofructokinase deficiency (disorder) [Inactive SNOMED CT concept]
- Tarui disease [MedDRA LLT]
- glycogen storage disease VII [DO Concept]
- glycogen storage disease type 7 [Disease (Nov.)]
- glycogen storage disease type VII [MeSH concept]
- glycogen storage disease type vii [MeSH Descriptor]
- glycogen storage disease, type vii [SNOMED Notion]

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