Carbamoyl-Phosphate Synthetase I Deficiency

Preferred Label : Carbamoyl-Phosphate Synthetase I Deficiency;

NCIt related terms : Carbamoyl Phosphate Synthetase Deficiency;

NCIt definition : A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability.;

Details

Origin ID

C84612;

UMLS CUI

C0751753;

Automatic exact mappings (from CISMeF team)
- Carbamoyl phosphate synthetase deficiency [PASCAL descriptor]
- Deficiency Diseases [DeCS]
- Hypocalcemia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to [OMIM Phenotype]
- Carbamoyl phosphate synthetase deficiency [MedDRA Preferred Term]
- Carbamoyl-Phosphate synthase I deficiency disease [MeSH 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]
- carbamoyl-phosphate synthase i deficiency disease [MeSH Descriptor]
- congenital hyperammonemia, type i [SNOMED Notion]
DO Cross reference
- carbamoyl phosphate synthetase I deficiency disease [DO Concept]
False automatic mappings
- Carbamoyl-Phosphate synthase (Ammonia) [MeSH concept]
- Carbamoyl-Phosphate synthase (Glutamine-Hydrolyzing) [MeSH concept]
- carbamoyl-phosphate synthase (ammonia) [MeSH Descriptor]
- carbamoyl-phosphate synthase (ammonia) [SNOMED Notion]
- carbamoyl-phosphate synthase (glutamine-hydrolysing) [SNOMED Notion]
- carbamoyl-phosphate synthase (glutamine-hydrolyzing) [MeSH Descriptor]
- deficiency diseases [MeSH concept]
- deficiency diseases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbamoyl phosphate synthetase deficiency [MedDRA Preferred Term]
- Carbamoyl-Phosphate synthase I deficiency disease [MeSH 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]
- carbamoyl-phosphate synthase i deficiency disease [MeSH Descriptor]
- congenital hyperammonemia, type i [SNOMED Notion]
Validated automatic mappings to NTBT
- deficiency disease [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CPS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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