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 |
3315142018 | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315143011 | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315144017 | Pettigrew syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401964012 | A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401965013 | A rare central nervous system malformation characterised by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315142018 | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315143011 | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315144017 | Pettigrew syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315145016 | A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401964012 | A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401965013 | A rare central nervous system malformation characterised by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3442271001000116 | X-chromosomale Intelligenzminderung-Dandy-Walker-Malformation-Basalganglienkrankheit-Krämpfe-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
905011000172111 | syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
989281000172110 | syndrome de déficience intellectuelle liée à l'X, malformation de Dandy-Walker, anomalies des ganglions de la base, convulsions | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
905011000172111 | syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
989281000172110 | syndrome de déficience intellectuelle liée à l'X, malformation de Dandy-Walker, anomalies des ganglions de la base, convulsions | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3442271001000116 | X-chromosomale Intelligenzminderung-Dandy-Walker-Malformation-Basalganglienkrankheit-Krämpfe-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)