Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 62033012 | Cystinuria, type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 62034018 | Recessive cystinuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 769020013 | Cystinuria, type 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1601911000005113 | Cystinuri, type 1 | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cystinuria, type 1 | Is a | Cystinuria | true | Inferred relationship | Some | ||
| Cystinuria, type 1 | Finding site | Kidney structure | true | Inferred relationship | Some | 2 | |
| Cystinuria, type 1 | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Cystinuria, type 1 | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| Cystinuria, type 1 | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Cystinuria, type 1 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cystinuria, type 1 | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Cystinuria, type 1 | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Cystinuria, type 1 | Interprets | Muscle tone (observable entity) | true | Inferred relationship | Some | 3 | |
| Cystinuria, type 1 | Is a | Poor muscle tone (finding) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hypotonia cystinuria syndrome (disorder) | Is a | True | Cystinuria, type 1 | Inferred relationship | Some | |
| A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism). | Is a | True | Cystinuria, type 1 | Inferred relationship | Some | |
| The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. | Is a | True | Cystinuria, type 1 | Inferred relationship | Some |
This concept is not in any reference sets
FHIR