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 |
| 293063018 | Cystinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 293064012 | Cystine disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 293065013 | Cystine storage disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 293066014 | Cystine diathesis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 574292018 | Cystinosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 833861000052111 | cystinos | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cystinosis (disorder) | Is a | Metabolic renal disease | false | Inferred relationship | Some | ||
| Cystinosis (disorder) | Is a | Amino acid transport disorder | true | Inferred relationship | Some | ||
| Cystinosis (disorder) | Is a | Hereditary disorder of the urinary system | false | Inferred relationship | Some | ||
| Cystinosis (disorder) | Is a | Congenital anomaly of trunk | false | Inferred relationship | Some | ||
| Cystinosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cystinosis (disorder) | Finding site | Kidney structure | false | Inferred relationship | Some | ||
| Cystinosis (disorder) | Is a | Storage disease | true | Inferred relationship | Some | ||
| Cystinosis (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cystinosis (disorder) | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Juvenile nephropathic cystinosis | Is a | True | Cystinosis (disorder) | Inferred relationship | Some | |
| Benign adult cystinosis | Is a | True | Cystinosis (disorder) | Inferred relationship | Some | |
| Infantile nephropathic cystinosis | Is a | True | Cystinosis (disorder) | Inferred relationship | Some | |
| [EDTA] Cystinosis associated with renal failure | Is a | False | Cystinosis (disorder) | Inferred relationship | Some | |
| Hypothyroidism due to cystinosis | Due to | True | Cystinosis (disorder) | Inferred relationship | Some | 2 |
| Renal tubulo-interstitial disorder due to cystinosis (disorder) | Due to | True | Cystinosis (disorder) | Inferred relationship | Some | 3 |
| Nephropathic cystinosis (disorder) | Is a | True | Cystinosis (disorder) | Inferred relationship | Some | |
| Corneal cystine crystals due to cystinosis (disorder) | Due to | True | Cystinosis (disorder) | Inferred relationship | Some | 2 |
This concept is not in any reference sets
FHIR