glycogen storage disease type i

Preferred Label : glycogen storage disease type i;

MeSH definition : An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.;

MeSH synonym : glycogen storage disease 1 (GSD I); gierke's disease; von gierke's disease; disease, gierke's; glycogenosis 1; glucosephosphatase deficiencies; hepatorenal glycogen storage disease; gierke disease; deficiency, glucose-6-phosphatase; disease, von gierke; deficiencies, glucosephosphatase; disease, gierke; gierkes disease; glucose-6-phosphatase deficiency; deficiencies, glucose-6-phosphatase; glucose 6 phosphatase deficiency; glucose-6-phosphatase deficiencies; von gierke disease; disease, von gierke's; von gierkes disease; deficiency, glucosephosphatase; glucosephosphatase deficiency;

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

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

Détails

Origin ID

D005953;

UMLS CUI

C0017920;

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)
- Easily Downed in Argument Question [NCIt concept]
- Encephalitis lethargica (disorder) [SNOMED CT concept]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogenosis I Von Gierke [PASCAL descriptor]
- Type II glycogen storage disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- glucose-6-phosphatase catalytic subunit 1 [HGNC gene]
- glycogen storage disease type I [Artificial nutrition thesaurus concept]
- glycogen storage disease type x [SNOMED Notion]
- glycogen storage disease, type ii [SNOMED Notion]
- glycogen storage disease, type iii [SNOMED Notion]
- glycogen storage disease, type v [SNOMED Notion]
- neurofibromatosis [MedlinePlus Topic]
- platelet disorders [MedlinePlus Topic]
- von Willebrand Disease [NCIt concept]
- von Willebrand disorder (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Deficiency of glucose-6-phosphatase (disorder) [SNOMED CT concept]
- Glucose-6-phosphatase deficiency [MedDRA LLT]
- Glycogen Storage Disease Type I [NCIt concept]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogen storage disease due to glucose-6-phosphatase deficiency [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 I [MedDRA Preferred Term]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Type I glycogen storage disease [MedDRA LLT]
- Von Gierke's disease [MedDRA LLT]
- glycogen storage disease I [DO Concept]
- glycogen storage disease type 1 [Disease (Nov.)]
- glycogen storage disease, type i [SNOMED Notion]
DO Cross reference
- glycogen storage disease I [DO Concept]
Manual NTBT mappings (CISMeF)
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia [ORDO Disease]
- Glycogen storage disease type 1c [ORDO Disease]
- Glycogen storage disease type 1d [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
MeSH Descriptor(s) used for indexing
- glucose-6-phosphatase [MeSH Descriptor]
Record concept(s)
- glycogen storage disease type I [MeSH concept]
Related MeSH Supplementary Concept(s)
- Glucose-6-phosphate translocase deficiency [MeSH Supplementary Concept]
- glycogen storage disease IB [MeSH Supplementary Concept]
- glycogen storage disease id [MeSH Supplementary Concept]
- hepatorenal form of glycogen storage disease [MeSH Supplementary Concept]
See also inter- (CISMeF)
- glycogen storage disease type 1a [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of glucose-6-phosphatase (disorder) [SNOMED CT concept]
- Glucose-6-phosphatase deficiency [MedDRA LLT]
- Glycogen Storage Disease Type I [NCIt concept]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disease type I [MedDRA Preferred Term]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Type I glycogen storage disease [MedDRA LLT]
- Von Gierke's disease [MedDRA LLT]
- glycogen storage disease I [DO Concept]
- glycogen storage disease type 1 [Disease (Nov.)]
- glycogen storage disease, type i [SNOMED Notion]
Validated automatic mappings to BTNT
- Glycogen Storage Disease Type Ia [NCIt concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ICD-11 More detail]
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib [ORDO Disease]
Validated automatic mappings to NTBT
- glycogen storage disease [Disease (Nov.)]

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