glycogen storage disease type ix

Preferred Label : glycogen storage disease type ix;

MeSH synonym : phosphorylase kinase deficiency; phk deficiency; phosphorylase B kinase deficiency; gsd ix; gsdix;

Is substance : O;

Details

Origin ID

C580130;

UMLS CUI

C0268147;

Automatic exact mappings (from CISMeF team)
- Deficiency of phosphorylase b kinase (disorder) [SNOMED CT concept]
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease type IX [MedDRA Preferred Term]
- glycogen storage disease IXd [DO Concept]
Currated CISMeF NLP mapping
- Glycogen Storage Disease Type IX [NCIt concept]
- Glycogen storage disease due to glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease due to phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease type IX (disorder) [SNOMED CT concept]
- Glycogen storage disease, type IX (disorder) [Inactive SNOMED CT concept]
- glycogen storage disease type 9 [Disease (Nov.)]
- glycogen storage disease, type ix [SNOMED Notion]
MeSH term(s) associated for indexing
- glycogen storage disease [MeSH Descriptor]
Record concept(s)
- glycogen storage disease type ix [MeSH concept]
See also inter- (CISMeF)
- Deficiency of phosphorylase kinase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease Type IX [NCIt concept]
- Glycogen storage disease due to glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease due to phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease type IX [MedDRA Preferred Term]
- Glycogen storage disease type IX (disorder) [SNOMED CT concept]
- Glycogen storage disease, type IX (disorder) [Inactive SNOMED CT concept]
- glycogen storage disease type 9 [Disease (Nov.)]
- glycogen storage disease, type ix [SNOMED Notion]

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