hepatorenal form of glycogen storage disease

Preferred Label : hepatorenal form of glycogen storage disease;

MeSH synonym : hepatorenal glycogenosis; glycogen storage disease type IA;

Origin ID

C538655;

UMLS CUI

C2919796;

Currated CISMeF NLP mapping
- Glycogen Storage Disease Type Ia [NCIt concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ICD-11 More detail]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphate system deficiency [ICD-11 More detail]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disease type IA [MedDRA LLT]
- Glycogen storage disease type Ia (disorder) [SNOMED CT concept]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Von Gierke's disease [MedDRA LLT]
MeSH term(s) associated for indexing
- glycogen storage disease type i [MeSH Descriptor]
Record concept(s)
- Hepatorenal form of glycogen storage disease [MeSH concept]
See also inter- (CISMeF)
- glycogen storage disease type 1 [Disease (Nov.)]
- glycogen storage disease type 1a [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease Type Ia [NCIt concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia [ORDO Disease]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disease type IA [MedDRA LLT]
- Glycogen storage disease type Ia (disorder) [SNOMED CT concept]