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 |
3324688016 | This syndrome has principal characteristics of by 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) | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | morphologie associée (attribut) | Superior displacement | true | Inferred relationship | Some | 1 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Brain cerebrospinal fluid pathway | true | Inferred relationship | Some | 2 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | localisation d'une constatation (attribut) | scapula (structure corporelle) | true | Inferred relationship | Some | 1 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital dilatation (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | morphologie associée (attribut) | dilatation | true | Inferred relationship | Some | 2 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | est un(e) (attribut) | hydrocéphalie congénitale | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | est un(e) (attribut) | Congenital elevation of scapula | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital dilatation (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 3 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | localisation d'une constatation (attribut) | scapula (structure corporelle) | false | Inferred relationship | Some | 4 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | localisation d'une constatation (attribut) | scapula (structure corporelle) | false | Inferred relationship | Some | 5 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) | morphologie associée (attribut) | Superior displacement | false | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)