Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3705350016 | Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705351017 | Torticollis, keloids, cryptorchidism, renal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705353019 | An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777379018 | An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented naevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5521241000241114 | syndrome de torticolis, chéloïdes, cryptorchidie et dysplasie 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 |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Torticollis | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Renal dysplasia | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Congenital anomaly of skin | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 3 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Finding site | Skeletal muscle structure of neck | true | Inferred relationship | Some | 2 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 2 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Congenital anomaly of neck | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Congenital deformity | false | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
| Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | Is a | Congenital deformity of soft tissue | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR