Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency

Preferred Label : Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency;

ICD-11 definition : Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood. It is the most common presentation of glycogen storage disease due to PhK deficiency.;

ICD-11 inclusion : Glycogenosis type 9A; Glycogenosis type 9C; Glycogenosis type 6A; Glycogen storage disease type 6A; Glycogen storage disease type 9C; Glycogen storage disease type 9A; GSD6A; GSD type 9C; GSD9A;

Details

Origin ID

564605304;

UMLS CUI

C0017927;

CISMeF manual mappings
- Glycogen storage disease due to liver phosphorylase kinase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Glycogen storage disease type VIII (disorder) [SNOMED CT concept]
- Hepatic glycogen phosphorylase kinase deficiency (disorder) [SNOMED CT concept]
- Hepatic glycogenosis [MedDRA LLT]
- glycogen storage disease VIII [DO Concept]
- glycogen storage disease type VIII [MeSH concept]
- glycogen storage disease type viii [MeSH Descriptor]
- glycogen storage disease type viii [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease type VIII [MedDRA Preferred Term]
- Glycogen storage disease type VIII (disorder) [SNOMED CT concept]
- Glycogenosis type VIII [MedDRA LLT]
- Hepatic glycogen phosphorylase kinase deficiency (disorder) [SNOMED CT concept]
- Hepatic glycogenosis [MedDRA LLT]
- glycogen storage disease VIII [DO Concept]
- glycogen storage disease type VIII [MeSH concept]
- glycogen storage disease type viii [MeSH Descriptor]
- glycogen storage disease type viii [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients