Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3657948011 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657949015 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657950015 | Tuberous sclerosis, polycystic kidney disease contiguous gene syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657951016 | Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 1008121000172117 | polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1010651000172119 | syndrome du gène contigu de la sclérose tubéreuse/polykystose rénale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Is a | Autosomal dominant polycystic kidney disease (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 1 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Is a | Tuberous sclerosis syndrome | true | Inferred relationship | Some | ||
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Due to | Hamartoma (disorder) | false | Inferred relationship | Some | 4 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 1 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 2 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | Polycystic change | true | Inferred relationship | Some | 1 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 3 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | Polycystic change | false | Inferred relationship | Some | 3 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Finding site | Kidney structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | Hamartoma | false | Inferred relationship | Some | 4 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Finding site | Structure of multiple topographic sites | true | Inferred relationship | Some | 4 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Is a | Congenital anomaly of skin | true | Inferred relationship | Some | ||
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | Neoplasm | true | Inferred relationship | Some | 5 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 5 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 6 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | Neoplasm | true | Inferred relationship | Some | 6 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 3 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | Neoplasm and/or hamartoma (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) | Associated morphology | Neoplasm and/or hamartoma (morphologic abnormality) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR