Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3657932010 | Carbamoyl-phosphate synthetase I deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3657933017 | Carbamoyl-phosphate synthetase 1 deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3657934011 | Carbamoyl-phosphate synthetase 1 deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3780968014 | CPS1 (carbamoyl-phosphate synthetase 1) deficiency | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3657936013 | A rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3657937016 | A rare and severe disorder of urea cycle metabolism most commonly characterised by either a neonatal-onset of severe hyperammonaemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonaemia. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Carbamoyl-phosphate synthetase 1 deficiency | Is a | Inborn error of amino acid metabolism | true | Inferred relationship | Some | ||
| Carbamoyl-phosphate synthetase 1 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Carbamoyl-phosphate synthetase 1 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Carbamoyl-phosphate synthetase 1 deficiency | Is a | Disorder of the urea cycle metabolism | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set
FHIR