glycogen storage disease type iii

Preferred Label : glycogen storage disease type iii;

MeSH definition : An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.;

MeSH synonym : debrancher deficiencies, glycogen; deficiencies, glycogen debrancher; glycogen storage disease type 3; glycogenosis 3s; debrancher deficiency; limit dextrinoses; cori disease; forbes disease; glycogen debranching enzyme deficiency; deficiency, debrancher; debrancher deficiencies; coris disease; cori's disease; disease, cori's; deficiencies, debrancher; limit dextrinosis; dextrinoses, limit; dextrinosis, limit; glycogen debrancher deficiency; debrancher deficiency, glycogen; deficiency, glycogen debrancher; glycogen debrancher deficiencies; glycogenosis 3; disease, cori; disease, forbes; glycogen storage disease III; Amylo-1,6-Glucosidase deficiency; amylo 1,6 glucosidase deficiency; Amylo-1,6-Glucosidase deficiencies; deficiencies, Amylo-1,6-Glucosidase; deficiency, Amylo-1,6-Glucosidase;

CISMeF synonym : 3, glycogenosis;

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

Wikipedia link : https://en.wikipedia.org/wiki/Amylo-1,6-glucosidase deficiency;

Details

Origin ID

D006010;

UMLS CUI

C0017922;

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)
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogenosis III Forbes Cori [PASCAL descriptor]
- Type II glycogen storage disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [ORDO Gene]
- amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [HGNC gene]
- glycogen storage disease III [DO Concept]
- glycogen storage disease type x [SNOMED Notion]
- glycogen storage disease, type i [SNOMED Notion]
- glycogen storage disease, type ii [SNOMED Notion]
- glycogen storage disease, type v [SNOMED Notion]
Currated CISMeF NLP mapping
- Debrancher deficiency [MedDRA LLT]
- Deficiency of amylo-1,6-glucosidase (disorder) [SNOMED CT concept]
- Forbes' disease [MedDRA LLT]
- Glycogen Storage Disease Type III [NCIt concept]
- Glycogen storage disease III [OMIM Phenotype]
- Glycogen storage disease due to glycogen debranching enzyme deficiency [ORDO Disease]
- Glycogen storage disease due to glycogen debranching enzyme deficiency [ICD-11 More detail]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
- glycogen storage disease type 3 [Disease (Nov.)]
- glycogen storage disease, type iii [SNOMED Notion]
DO Cross reference
- glycogen storage disease III [DO Concept]
Manual NTBT mappings (CISMeF)
- Glycogen storage disease with hypertrophic cardiomyopathy [ORDO Disease]
- Muscular glycogenosis [ORDO Disease]
Record concept(s)
- glycogen storage disease type III [MeSH concept]
Related MeSH Supplementary Concept(s)
- glycogen storage disease IIIA [MeSH Supplementary Concept]
- glycogen storage disease IIIB [MeSH Supplementary Concept]
- glycogen storage disease IIIC [MeSH Supplementary Concept]
- glycogen storage disease IIID [MeSH Supplementary Concept]
See also
- glycogen debranching enzyme system [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Debrancher deficiency [MedDRA LLT]
- Forbes' disease [MedDRA LLT]
- Glycogen Storage Disease Type III [NCIt concept]
- Glycogen storage disease III [OMIM Phenotype]
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form [ORDO Disease]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
- glycogen storage disease III [DO Concept]
- glycogen storage disease type 3 [Disease (Nov.)]
- glycogen storage disease, type iii [SNOMED Notion]

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