Glycogen storage disease due to heart glycogen phosphorylase kinase deficiency

Preferred Label : Glycogen storage disease due to heart glycogen phosphorylase kinase deficiency;

ICD-11 synonym : glycogen heart disease; Glycogen storage disease of heart; Glycogen storage disease type 9F; glycogenic myocardium infiltration; Cardiac glycogenosis; cardiomegalia glycogenica diffusa; glycogenic myocardial infiltration; Glycogenosis type 9F; GSD9F;

Details

Origin ID

2114353788;

UMLS CUI

C1849813;

Automatic exact mappings (from CISMeF team)
- Cardiac glycogenosis (disorder) [SNOMED CT concept]
- Glycogen storage disease, type II (disorder) [SNOMED CT concept]
- Pompe disease [OMIM Phenotype]
- cardiac form of generalized glycogenosis [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease [ORDO Disease]
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) [SNOMED CT concept]
- Glycogen storage disease of heart, lethal congenital [OMIM Phenotype]
- glycogen storage disease of heart, lethal congenital [MeSH Supplementary Concept]
- glycogen storage disease of heart, lethal congenital [MeSH concept]
- lethal congenital glycogen storage disease of heart [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease [ORDO Disease]
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (disorder) [SNOMED CT concept]
- Glycogen storage disease of heart, lethal congenital [OMIM Phenotype]
- glycogen storage disease of heart, lethal congenital [MeSH concept]
- glycogen storage disease of heart, lethal congenital [MeSH Supplementary Concept]
- lethal congenital glycogen storage disease of heart [DO Concept]

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