glycogen storage disease, type IXD

Preferred Label : glycogen storage disease, type IXD;

MeSH note : mutation in PHKA1;

MeSH synonym : GSD9D; muscle phosphorylase kinase deficiency; GSD IXD; muscle glycogenosis, X-Linked;

Details

Origin ID

C564485;

UMLS CUI

C1845151;

Currated CISMeF NLP mapping
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) [SNOMED CT concept]
- Glycogen storage disease ixd [OMIM Phenotype]
- glycogen storage disease IXd [DO Concept]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- glycogen storage disease [MeSH Descriptor]
Record concept(s)
- glycogen storage disease, type IXD [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) [SNOMED CT concept]
- Glycogen storage disease ixd [OMIM Phenotype]
Validated automatic mappings to NTBT
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

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