glycogen storage disease of heart, lethal congenital

Preferred Label : glycogen storage disease of heart, lethal congenital;

MeSH synonym : phosphorylase kinase deficiency of heart; glycogen storage disease of heart;

Details

Origin ID

C564888;

UMLS CUI

C1849813;

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 due to heart glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease of heart, lethal congenital [OMIM Phenotype]
- lethal congenital glycogen storage disease of heart [DO Concept]
MeSH term(s) associated for indexing
- glycogen storage disease [MeSH Descriptor]
- heart diseases [MeSH Descriptor]
Record concept(s)
- glycogen storage disease of heart, lethal congenital [MeSH 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 due to heart glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease of heart, lethal congenital [OMIM Phenotype]
- lethal congenital glycogen storage disease of heart [DO Concept]

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