Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3657932010 | Carbamoyl-phosphate synthetase I deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3657933017 | Carbamoyl-phosphate synthetase 1 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3657934011 | Carbamoyl-phosphate synthetase 1 deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3780968014 | CPS1 (carbamoyl-phosphate synthetase 1) deficiency | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 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 | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 1 deficiency | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Carbamoyl-phosphate synthetase 1 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Carbamoyl-phosphate synthetase 1 deficiency | Is a | Disorder of the urea cycle metabolism | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR