glycogen storage disease IXB

Preferred Label : glycogen storage disease IXB;

MeSH note : mutation in PHKB;

MeSH synonym : phosphorylase kinase deficiency of liver and muscle, autosomal recessive; GSD9B; glycogenosis of liver and muscle, autosomal recessive; GSD IXB;

Details

Origin ID

C563008;

UMLS CUI

C0543514;

Currated CISMeF NLP mapping
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease ixb [OMIM Phenotype]
- Glycogen storage disease type IXB (disorder) [SNOMED CT concept]
- Glycogen storage disease type IXb [MedDRA LLT]
- glycogen storage disease IXb [DO Concept]
MeSH term(s) associated for indexing
- glycogen storage disease [MeSH Descriptor]
Record concept(s)
- glycogen storage disease IXB [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease ixb [OMIM Phenotype]
- Glycogen storage disease type IXB (disorder) [SNOMED CT concept]
- Glycogen storage disease type IXb [MedDRA LLT]
- glycogen storage disease IXb [DO Concept]

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