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 |
3724268018 | Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724269014 | Spondylocostal dysostosis, hypospadias, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3724270010 | A rare genetic bone developmental disorder characterised by generalised vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3724271014 | A rare genetic bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4208981000052114 | syndrom med spondylokostal dysostos, hypospadi och intellektuell funktionsnedsättning | 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 |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Finding of vertebra | false | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Associated morphology | medfödd malposition | false | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Finding site | Structure of urethral meatus | false | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Disorder of vertebral column (disorder) | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Finding site | Bone structure of spine | false | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Hypospadias (disorder) | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Finding site | Bone structure of rib | false | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of spine | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of rib | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Dysostosis | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of the urinary system | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Associated morphology | Malposition (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Finding site | Bone structure of rib | true | Inferred relationship | Some | 1 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Finding site | Bone structure of spine | true | Inferred relationship | Some | 2 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Finding site | Structure of urethral meatus | true | Inferred relationship | Some | 3 | |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets