carbohydrate metabolism, inborn errors

Preferred Label : carbohydrate metabolism, inborn errors;

MeSH definition : Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.;

MeSH synonym : carbohydrate metabolism, inborn error;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific carbohydrate /metab (IM); FRUCTOSE METABOLISM, INBORN ERRORS & PYRUVATE METABOLISM, INBORN ERRORS are also available; DF: CARB METAB INBORN ERR; coordinate with specific carbohydrate /metab but note specifics;

Wikipedia link : https://en.wikipedia.org/wiki/Carbohydrate metabolism, inborn errors;

Details

Origin ID

D002239;

UMLS CUI

C0007001;

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)
- carbohydrate metabolic disorder [DO Concept]
Currated CISMeF NLP mapping
- Inborn errors of carbohydrate metabolism [ICD-11 Category]
DO Cross reference
- carbohydrate metabolic disorder [DO Concept]
Record concept(s)
- carbohydrate metabolism, inborn errors [MeSH concept]
Related MeSH Supplementary Concept(s)
- Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome [MeSH Supplementary Concept]
- D-glycericacidemia [MeSH Supplementary Concept]
- Glucose-Galactose malabsorption [MeSH Supplementary Concept]
- Glut1 Deficiency Syndrome [MeSH Supplementary Concept]
- fructose and galactose intolerance [MeSH Supplementary Concept]
- hyperproglucagonemia [MeSH Supplementary Concept]
- lactase deficiency, congenital [MeSH Supplementary Concept]
- lactate dehydrogenase deficiency [MeSH Supplementary Concept]
- myopathy with storage of glycoproteins and glycosaminoglycans [MeSH Supplementary Concept]
- pentosuria [MeSH Supplementary Concept]
- phosphoenolpyruvate carboxykinase deficiency [MeSH Supplementary Concept]
- phosphoenolpyruvate carboxykinase deficiency, mitochondrial [MeSH Supplementary Concept]
- phosphoglycerate dehydrogenase deficiency [MeSH Supplementary Concept]
- polysaccharide, storage of unusual [MeSH Supplementary Concept]
- ribose 5-Phosphate isomerase deficiency [MeSH Supplementary Concept]
- sucrase-isomaltase deficiency, congenital [MeSH Supplementary Concept]
- transaldolase deficiency [MeSH Supplementary Concept]
- trehalase deficiency [MeSH Supplementary Concept]
- triosephosphate isomerase deficiency [MeSH Supplementary Concept]
- xylosidase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inborn errors of carbohydrate metabolism [ICD-11 Category]
- carbohydrate metabolic disorder [DO Concept]

Keyword's position in hierarchy(ies) :

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