Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 293063018 | Cystinosis | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 293064012 | Cystine disease | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 293065013 | Cystine storage disease | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 293066014 | Cystine diathesis | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 574292018 | Cystinosis (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cystinosis | Is a | Storage disease | true | Inferred relationship | Some | ||
| Cystinosis | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cystinosis | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Cystinosis | Is a | Metabolic renal disease | false | Inferred relationship | Some | ||
| Cystinosis | Is a | Amino acid transport disorder | true | Inferred relationship | Some | ||
| Cystinosis | Is a | Hereditary disorder of the urinary system | false | Inferred relationship | Some | ||
| Cystinosis | Is a | Congenital anomaly of trunk | false | Inferred relationship | Some | ||
| Cystinosis | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cystinosis | Finding site | Kidney structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Renal tubulo-interstitial disorder due to cystinosis | Due to | True | Cystinosis | Inferred relationship | Some | 3 |
| Juvenile nephropathic cystinosis | Is a | True | Cystinosis | Inferred relationship | Some | |
| Benign adult cystinosis | Is a | True | Cystinosis | Inferred relationship | Some | |
| Infantile nephropathic cystinosis | Is a | True | Cystinosis | Inferred relationship | Some | |
| Hypothyroidism due to cystinosis | Due to | True | Cystinosis | Inferred relationship | Some | 2 |
| [EDTA] Cystinosis associated with renal failure | Is a | False | Cystinosis | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR