urea cycle disorders, inborn

Preferred Label : urea cycle disorders, inborn;

MeSH definition : Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.;

MeSH synonym : urea cycle disorder; urea cycle disorders; disorder, urea cycle; disorders, urea cycle; inborn urea cycle disorder;

Details

Origin ID

D056806;

UMLS CUI

C0154246;

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)
- Urea cycle disorder [MedDRA Preferred Term]
- metabolism disorder urea cycle [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Disorder of the urea cycle metabolism (disorder) [SNOMED CT concept]
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- Disorders of urea cycle metabolism [ICD-9 code]
- Disorders of urea cycle metabolism [MedDRA LLT]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Urea Cycle Metabolism Disorder [NCIt concept]
- disorder of the urea cycle metabolism, nos [SNOMED Notion]
- urea cycle disorder [DO Concept]
- urea cycle disorder [Disease (Nov.)]
DO Cross reference
- urea cycle disorder [DO Concept]
Record concept(s)
- urea cycle disorders, inborn [MeSH concept]
Related MeSH Supplementary Concept(s)
- 3-methylcrotonyl CoA carboxylase 1 deficiency [MeSH Supplementary Concept]
- 3-methylcrotonyl CoA carboxylase 2 deficiency [MeSH Supplementary Concept]
- HHH syndrome [MeSH Supplementary Concept]
- N-acetyl glutamate synthetase deficiency [MeSH Supplementary Concept]
- citrulline transport defect [MeSH Supplementary Concept]
- osteopetrosis with renal tubular acidosis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of the urea cycle metabolism (disorder) [SNOMED CT concept]
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
- Disorders of urea cycle metabolism [ICD-9 code]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- Disorders of urea cycle metabolism [MedDRA LLT]
- Urea Cycle Metabolism Disorder [NCIt concept]
- Urea cycle disorder [MedDRA Preferred Term]
- disorder of the urea cycle metabolism, nos [SNOMED Notion]
- urea cycle disorder [DO Concept]
- urea cycle disorder [Disease (Nov.)]
Validated automatic mappings to NTBT
- urea cycle disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients