glycogen storage disease type viii

Preferred Label : glycogen storage disease type viii;

MeSH definition : An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.;

MeSH synonym : glycogenosis 8;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Glycogen storage disease type viii;

Details

Origin ID

D006015;

UMLS CUI

C0017927;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Glycogenosis VIII [PASCAL descriptor]
Currated CISMeF NLP mapping
- Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- Glycogen storage disease due to liver phosphorylase kinase deficiency [ORDO Disease]
- 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 [SNOMED Notion]
DO Cross reference
- glycogen storage disease VIII [DO Concept]
False automatic mappings
- Glycogen storage disease type VII [MedDRA Preferred Term]
- Glycogen storage disease, type VII (disorder) [SNOMED CT concept]
- Glycogenosis type VII [MedDRA LLT]
- glycogen storage disease, type vii [SNOMED Notion]
Record concept(s)
- glycogen storage disease type VIII [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to liver glycogen phosphorylase kinase deficiency [ICD-11 More detail]
- 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 [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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