Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | résultat concernant une vertèbre | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital malposition (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Structure of urethral meatus | false | Inferred relationship | Some | 2 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | affection du rachis | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la colonne vertébrale (structure corporelle) | false | Inferred relationship | Some | 1 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hypospadias (disorder) | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Bone structure of rib | false | Inferred relationship | Some | 3 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of spine | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of rib | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | Dysostosis | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the urinary system | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | false | Inferred relationship | Some | ||
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | morphologie associée (attribut) | dysplasie | false | Inferred relationship | Some | 1 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | morphologie associée (attribut) | dysplasie | false | Inferred relationship | Some | 2 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Malposition (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Bone structure of rib | false | Inferred relationship | Some | 1 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la colonne vertébrale (structure corporelle) | false | Inferred relationship | Some | 2 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Structure of urethral meatus | false | Inferred relationship | Some | 3 | |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
FHIR