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 |
5402656017 | A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402657014 | A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
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 |
5402656017 | A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402657014 | A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424271001000114 | Hydrozephalus - costovertebrale Dysplasie - Sprengel-Anomalie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6237051000241115 | syndrome de Waaler-Aarskog | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6237061000241117 | syndrome d'hydrocéphalie, dysplasie costovertébrale et anomalie de Sprengel | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6237071000241113 | syndrome de Ferlini-Ragno-Calzolari | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6237051000241115 | syndrome de Waaler-Aarskog | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6237061000241117 | syndrome d'hydrocéphalie, dysplasie costovertébrale et anomalie de Sprengel | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6237071000241113 | syndrome de Ferlini-Ragno-Calzolari | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3424271001000114 | Hydrozephalus - costovertebrale Dysplasie - Sprengel-Anomalie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Is a | Congenital hydrocephalus | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Is a | Congenital elevation of scapula | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Is a | Hereditary disorder of nervous system (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Associated morphology | Congenital dilatation | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Finding site | Structure of brain cerebrospinal fluid pathway (body structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Finding site | Bone structure of scapula | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Finding site | Bone structure of scapula | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Associated morphology | anomalie du développement | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Associated morphology | Superior displacement | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Associated morphology | Superior displacement | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Finding site | Structure of brain cerebrospinal fluid pathway (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Finding site | Bone structure of scapula | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Associated morphology | Congenital dilatation | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Associated morphology | Dilatation | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare multiple congenital anomalies syndrome characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)