Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3425101016 | A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403110019 | Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403111015 | Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterised by thoracic dystrophy, laryngeal stenosis and a small pelvis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425099011 | Thoracolaryngopelvic dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425100015 | Barnes syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425102011 | Thoracolaryngopelvic dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425103018 | Thoracolaryngopelvic dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Is a | Congenital anomaly of pelvic bones | true | Inferred relationship | Some | ||
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Is a | Short rib dysplasia | true | Inferred relationship | Some | ||
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Finding site | Bone structure of rib | false | Inferred relationship | Some | 3 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Finding site | Bone structure of pelvis | false | Inferred relationship | Some | 4 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Finding site | Bone structure of rib | true | Inferred relationship | Some | 2 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Finding site | Bone structure of pelvis | true | Inferred relationship | Some | 1 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR