glycogen storage disease

Preferred Label : glycogen storage disease;

MeSH definition : A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.;

MeSH synonym : glycogenosis; storage diseases, glycogen; storage disease, glycogen; glycogen storage diseases; disease, glycogen storage; diseases, glycogen storage; glycogenoses;

MeSH annotation : an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

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

Details

Origin ID

D006008;

UMLS CUI

C0017919;

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 III [OMIM Phenotype]
- Glycogen storage disease V [OMIM Phenotype]
- Glycogen storage disease X [OMIM Phenotype]
- Glycogen storage disease due to hepatic glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease type VI [MedDRA Preferred Term]
- Pompe disease [OMIM Phenotype]
Currated CISMeF NLP mapping
- Glycogen Storage Disease [NCIt concept]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-11 Subcategory]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogen storage disease [ORDO Disease]
- Glycogen storage disease (disorder) [SNOMED CT concept]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disorder [MedDRA Preferred Term]
- Glycogen storage disorder NOS [MedDRA LLT]
- Glycogenoses [MedDRA LLT]
- Glycogenosis [PASCAL descriptor]
- Glycogenosis [ICD-9 code]
- Glycogenosis [MedDRA LLT]
- glycogen storage disease [Disease (Nov.)]
- glycogen storage disease [DO Concept]
- glycogen storage disease [Artificial nutrition thesaurus concept]
- glycogen storage disease, nos [SNOMED Notion]
- glycogen storage disease, type i [SNOMED Notion]
- glycogen storage diseases [Error of metabolism category]
DO Cross reference
- glycogen storage disease [DO Concept]
Manual BTNT mappings - CISMeF
- Fanconi-Bickel syndrome [ORDO Disease]
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency [ORDO Disease]
ORDO relation(s)
- Glycogen storage disease [ORDO Disease]
Record concept(s)
- glycogen storage disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- glycogen storage disease 0, liver [MeSH Supplementary Concept]
- glycogen storage disease 0, muscle [MeSH Supplementary Concept]
- glycogen storage disease IC [MeSH Supplementary Concept]
- glycogen storage disease IXB [MeSH Supplementary Concept]
- glycogen storage disease IXC [MeSH Supplementary Concept]
- glycogen storage disease XII [MeSH Supplementary Concept]
- glycogen storage disease XIII [MeSH Supplementary Concept]
- glycogen storage disease XIV [MeSH Supplementary Concept]
- glycogen storage disease of heart, lethal congenital [MeSH Supplementary Concept]
- glycogen storage disease type ix [MeSH Supplementary Concept]
- glycogen storage disease, type IXA2 [MeSH Supplementary Concept]
- glycogen storage disease, type IXD [MeSH Supplementary Concept]
- lactate dehydrogenase deficiency type A [MeSH Supplementary Concept]
- liver glycogenosis, X-Linked, type II [MeSH Supplementary Concept]
- polyglucosan body disease, adult form [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- glycogen [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease [NCIt concept]
- Glycogen storage disease [ORDO Disease]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogen storage disease [ICD-11 Subcategory]
- Glycogen storage disease (disorder) [SNOMED CT concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disorder [MedDRA Preferred Term]
- Glycogen storage disorder NOS [MedDRA LLT]
- Glycogenoses [MedDRA LLT]
- Glycogenosis [ICD-9 code]
- Glycogenosis [MedDRA LLT]
- Glycogenosis [PASCAL descriptor]
- glycogen storage disease [DO Concept]
- glycogen storage disease [Disease (Nov.)]
- glycogen storage disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ICD-11 More detail]

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