Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3324684019 | Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3324685018 | Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3324686017 | Ferlini Ragno Calzolari syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3324687014 | Waaler Aarskog syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6289491000146115 | syndroom van Ferlini-Ragno-Calzolari | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6289501000146113 | syndroom van Waaler-Aarskog | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7025461000146113 | syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7025471000146119 | syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
5278154017 | This syndrome has principal characteristics of Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Is a | Congenital hydrocephalus | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Is a | Congenital elevation of scapula | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Associated morphology | congenitale dilatatie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 3 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Finding site | Bone structure of scapula | false | Inferred relationship | Some | 4 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Finding site | Bone structure of scapula | false | Inferred relationship | Some | 5 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 4 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Associated morphology | Superior displacement | false | Inferred relationship | Some | 5 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Associated morphology | Superior displacement | true | Inferred relationship | Some | 1 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | true | Inferred relationship | Some | 2 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Finding site | Bone structure of scapula | true | Inferred relationship | Some | 1 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Associated morphology | congenitale dilatatie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 2 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets