metabolism, inborn errors

Preferred Label : metabolism, inborn errors;

MeSH definition : Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.;

MeSH synonym : metabolisms, inborn errors; inborn errors metabolisms; errors metabolism, inborn; errors metabolisms, inborn; inborn errors metabolism; metabolism errors, inborn; error, inborn metabolism; errors, inborn metabolism; inborn metabolism error; inborn metabolism errors; metabolism error, inborn; inborn errors of metabolism; metabolism inborn error; metabolism inborn errors;

MeSH annotation : GEN: prefer specific types; differentiate from DEFICIENCY DISEASES; DF: METAB INBORN ERR; general or unspecified; prefer specific types; differentiate from DEFICIENCY DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Inborn errors of metabolism;

Details

Origin ID

D008661;

UMLS CUI

C0025521;

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)
- Electrical Impedance Myography [NCIt concept]
- Myoclonic epilepsy, familial infantile [OMIM Phenotype]
- inborn error metabolism [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Congenital Metabolic Disorder [NCIt concept]
- Inborn error of metabolism [MedDRA Preferred Term]
- Inborn error of metabolism (disorder) [SNOMED CT concept]
- Inborn error of metabolism NOS [MedDRA LLT]
- Inborn errors of metabolism [Bloc CIM-11]
- Inborn errors of metabolism [MedDRA High Level Group Term]
- Metabolic disease [EDAM topic]
- Rare inborn errors of metabolism [ORDO Disease]
- inborn error of metabolism [Disease (Nov.)]
- inborn error of metabolism, nos [SNOMED Notion]
- inherited metabolic disease [Disease (Nov.)]
- inherited metabolic disorder [DO Concept]
- metabolic disease, nos [SNOMED Notion]
- metabolic disorders [MedlinePlus Topic]
DO Cross reference
- inherited metabolic disorder [DO Concept]
Manual NTBT mappings (CISMeF)
- metabolic or nutritional genetic disorders [Disease (Nov.)]
MeSH Descriptor(s) used for indexing
- metabolic diseases [MeSH Descriptor]
ORDO relation(s)
- Rare inborn errors of metabolism [ORDO Disease]
Record concept(s)
- metabolism, inborn errors [MeSH concept]
Related MeSH Supplementary Concept(s)
- 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria type IV [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria, type I [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria, type V [MeSH Supplementary Concept]
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH Supplementary Concept]
- 5-Nucleotidase syndrome [MeSH Supplementary Concept]
- 6-Phosphogluconolactonase deficiency [MeSH Supplementary Concept]
- Deoxyribose-5-Phosphate aldolase deficiency [MeSH Supplementary Concept]
- Familial gynecomastia, due to increased aromatase activity [MeSH Supplementary Concept]
- L-Gulonolactone oxidase, nonfunctional [MeSH Supplementary Concept]
- Mannose-Binding protein deficiency [MeSH Supplementary Concept]
- Methylmalonyl-Coenzyme A mutase deficiency [MeSH Supplementary Concept]
- N acetyltransferase deficiency [MeSH Supplementary Concept]
- Retinol-Binding protein deficiency [MeSH Supplementary Concept]
- acetylcarnitine deficiency [MeSH Supplementary Concept]
- acholinesterasemia [MeSH Supplementary Concept]
- acid phosphatase deficiency [MeSH Supplementary Concept]
- adenine phosphoribosyltransferase deficiency [MeSH Supplementary Concept]
- alpha-Fetoprotein deficiency [MeSH Supplementary Concept]
- amobarbital, deficient N-Hydroxylation of [MeSH Supplementary Concept]
- arene oxide detoxification defect [MeSH Supplementary Concept]
- aromatase deficiency [MeSH Supplementary Concept]
- aryl hydrocarbon hydroxylase inducibility [MeSH Supplementary Concept]
- butyrylcholinesterase deficiency [MeSH Supplementary Concept]
- butyrylcholinesterase deficiency, Fluoride-Resistant, japanese type [MeSH Supplementary Concept]
- carnitine acetyltransferase deficiency [MeSH Supplementary Concept]
- carnitine palmitoyl transferase 2 deficiency [MeSH Supplementary Concept]
- chromate resistance [MeSH Supplementary Concept]
- combined malonic and methylmalonic aciduria [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 1 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 4 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 5 [MeSH Supplementary Concept]
- congenital chloride diarrhea [MeSH Supplementary Concept]
- copper deficiency, familial benign [MeSH Supplementary Concept]
- costeff optic atrophy syndrome [MeSH Supplementary Concept]
- coumarin resistance [MeSH Supplementary Concept]
- coumarin sensitivity [MeSH Supplementary Concept]
- deafness hyperuricemia neurologic ataxia [MeSH Supplementary Concept]
- diarrhea 3, secretory sodium, congenital [MeSH Supplementary Concept]
- diarrhea, Glucose-Stimulated secretory, with common variable immunodeficiency [MeSH Supplementary Concept]
- dihydropyrimidinase deficiency [MeSH Supplementary Concept]
- diphenylhydantoin, defect in hydroxylation of [MeSH Supplementary Concept]
- drug metabolism, poor, CYP2C19-Related [MeSH Supplementary Concept]
- drug metabolism, poor, CYP2D6-Related [MeSH Supplementary Concept]
- dystonia, Dopa-Responsive, due to sepiapterin reductase deficiency [MeSH Supplementary Concept]
- enterokinase deficiency [MeSH Supplementary Concept]
- ethanolaminosis [MeSH Supplementary Concept]
- finnish lethal neonatal metabolic syndrome [MeSH Supplementary Concept]
- fumaric aciduria [MeSH Supplementary Concept]
- glucocorticoid receptor deficiency [MeSH Supplementary Concept]
- glutamate formiminotransferase deficiency [MeSH Supplementary Concept]
- glycoprotein storage disease [MeSH Supplementary Concept]
- glyoxalase II deficiency [MeSH Supplementary Concept]
- growth factors, combined defect of [MeSH Supplementary Concept]
- hyaluronan metabolism, defect in [MeSH Supplementary Concept]
- hypercalcemia, idiopathic, of infancy [MeSH Supplementary Concept]
- hypoadiponectinemia [MeSH Supplementary Concept]
- hypokalemia, familial [MeSH Supplementary Concept]
- hypoproteinemia, hypercatabolic [MeSH Supplementary Concept]
- inosine triphosphatase deficiency [MeSH Supplementary Concept]
- intrinsic factor and R binder, combined congenital deficiency of [MeSH Supplementary Concept]
- kallikrein, decreased urinary activity of [MeSH Supplementary Concept]
- lactate dehydrogenase B deficiency [MeSH Supplementary Concept]
- lactic aciduria due to D-Lactic acid [MeSH Supplementary Concept]
- leukotriene C4 synthase deficiency [MeSH Supplementary Concept]
- malonic aciduria [MeSH Supplementary Concept]
- mannose 6-Phosphate receptor recognition defect, lebanese type [MeSH Supplementary Concept]
- medium chain 3-Ketoacyl-CoA thiolase deficiency [MeSH Supplementary Concept]
- methemoglobin reductase deficiency [MeSH Supplementary Concept]
- methylcobalamin deficiency, CblG type [MeSH Supplementary Concept]
- mitochondrial complex II deficiency [MeSH Supplementary Concept]
- mitochondrial dna depletion syndrome, encephalomyopathic form, with methylmalonic aciduria, autosomal recessive [MeSH Supplementary Concept]
- myeloperoxidase deficiency [MeSH Supplementary Concept]
- pancreatic insufficiency, combined exocrine [MeSH Supplementary Concept]
- phenacetin O-Deethylase, deficiency of [MeSH Supplementary Concept]
- phenol sulfotransferase deficiency [MeSH Supplementary Concept]
- phosphoglycerate kinase 1 deficiency [MeSH Supplementary Concept]
- proguanil, poor metabolism of [MeSH Supplementary Concept]
- stomatocytosis I [MeSH Supplementary Concept]
- stomatocytosis II [MeSH Supplementary Concept]
- succinic acidemia [MeSH Supplementary Concept]
- transcobalamin I deficiency [MeSH Supplementary Concept]
- trimethylaminuria [MeSH Supplementary Concept]
- warfarin sensitivity [MeSH Supplementary Concept]
- weinstein kliman scully syndrome [MeSH Supplementary Concept]
- wiedemann oldigs oppermann syndrome [MeSH Supplementary Concept]
- xanthinuria, type I [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- anemia, hemolytic, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- metabolic diseases [MeSH Descriptor]
- metabolism [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Metabolic Disorder [NCIt concept]
- Inborn error of metabolism [MedDRA Preferred Term]
- Inborn error of metabolism (disorder) [SNOMED CT concept]
- Inborn error of metabolism NOS [MedDRA LLT]
- Inborn errors of metabolism [MedDRA High Level Group Term]
- Inborn errors of metabolism [Bloc CIM-11]
- inborn error of metabolism [Disease (Nov.)]
- inborn error of metabolism, nos [SNOMED Notion]
- inherited metabolic disease [Disease (Nov.)]
- inherited metabolic disorder [DO Concept]
Validated automatic mappings to NTBT
- Metabolic Disorder [NCIt concept]
- metabolic disorder [Disease (Nov.)]

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