carbamoyl-phosphate synthase i deficiency disease

Preferred Label : carbamoyl-phosphate synthase i deficiency disease;

MeSH definition : A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1);

MeSH synonym : carbamyl-phosphate synthetase i deficiency disease; carbamoyl phosphate synthetase i deficiency disease; carbamoyl-phosphate synthetase i deficiency disease; carbamyl phosphate synthetase i deficiency disease; carbamoyl phosphate synthase (ammonia) deficiency disease; carbamyl phosphate synthetase deficiency disease; carbamoylphosphate synthetase i deficiency disease; Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency); Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency); Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency); Carbamoylphosphate Synthetase 1 Deficiency Disease -; Carbamoylphosphate Synthetase 1 Deficiency Disease; Carbamyl-Phosphate Synthetase 1 Deficiency Disease; Carbamyl Phosphate Synthetase 1 Deficiency Disease; Carbamoyl-Phosphate Synthase 1 Deficiency Disease; Carbamoyl Phosphate Synthase 1 Deficiency Disease;

CISMeF synonym : deficiency disease, carbamoyl phosphate synthase; deficiency disease, carbamoyl phosphate synthase (ammonia); deficiency disease, carbamoyl-phosphate synthase; Deficiency, CPS 1; deficiencies, CPS I; deficiency, CPS I; deficiency disease, carbamoylphosphate synthetase i; deficiency disease, carbamyl phosphate synthetase; Deficiencies, CPS 1;

DeCS synonym : Carbamoyl Phosphate Synthase 1 Deficiency; Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency;

Related MeSH term : Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To; CPS I Deficiency; CPS I Deficiencies; Carbamyl Phosphate Synthetase (CPS) Deficiency; CPS 1 Deficiency; CPS 1 Deficiencies; Carbamoyl Phosphate Synthetase I Deficiency;

MeSH annotation : consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic;

Details

Origin ID

D020165;

UMLS CUI

C0751753;

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)
- carbamoyl-phosphate synthase 1 deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to [OMIM Phenotype]
- Carbamoyl phosphate synthetase deficiency [MedDRA Preferred Term]
- Carbamoyl-Phosphate Synthetase I Deficiency [NCIt concept]
- Carbamoyl-phosphate synthetase 1 deficiency [ORDO Disease]
- Carbamoyl-phosphate synthetase 1 deficiency (disorder) [SNOMED CT concept]
- Carbamoylphosphate synthetase deficiency [ICD-11 Sub-sub category]
- Carbamylphosphate synthetase deficiency [MedDRA LLT]
- Congenital hyperammonemia, type I (disorder) [Inactive SNOMED CT concept]
- carbamoyl phosphate synthase i deficiency disease [Disease (Nov.)]
- carbamoyl phosphate synthetase I deficiency disease [DO Concept]
- congenital hyperammonemia, type i [SNOMED Notion]
DO Cross reference
- carbamoyl phosphate synthetase I deficiency disease [DO Concept]
Record concept(s)
- Carbamoyl Phosphate Synthase 1 Deficiency [MeSH concept]
- Carbamoyl-Phosphate synthase I deficiency disease [MeSH concept]
- Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency [MeSH concept]
See also
- carbamoyl-phosphate synthase (ammonia) [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbamoyl phosphate synthetase deficiency [MedDRA Preferred Term]
- Carbamoyl-Phosphate Synthetase I Deficiency [NCIt concept]
- Carbamoyl-phosphate synthetase 1 deficiency [ORDO Disease]
- Carbamoyl-phosphate synthetase 1 deficiency (disorder) [SNOMED CT concept]
- Carbamylphosphate synthetase deficiency [MedDRA LLT]
- carbamoyl phosphate synthetase I deficiency disease [DO Concept]
- congenital hyperammonemia, type i [SNOMED Notion]

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