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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un rein | true | Inferred relationship | Some | 3 | |
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | muscle squelettique du cou | true | Inferred relationship | Some | 2 | |
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | 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) | est un(e) (attribut) | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du cou | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 3 | |
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | anomalie morphologique congénitale | false | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | Congenital deformity of soft tissue | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | Torticollis | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | Renal dysplasia | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skin | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets