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 |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Is a | Dandy-Walker syndrome | true | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Is a | Disorder of basal ganglia (disorder) | true | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Is a | mental retardering | false | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Basal ganglion structure (body structure) | false | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | Aplasia | false | Inferred relationship | Some | 8 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 8 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | kongenit anomali | false | Inferred relationship | Some | 7 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 7 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 7 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Foramen of Magendie | false | Inferred relationship | Some | 7 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | Kongenit dilatation | false | Inferred relationship | Some | 10 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 10 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | kongenit kavitation | false | Inferred relationship | Some | 6 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 6 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | kongenit kavitation | false | Inferred relationship | Some | 9 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 9 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | dysgenese | false | Inferred relationship | Some | 6 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 6 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 4 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 2 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 3 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Fourth ventricle structure | false | Inferred relationship | Some | 5 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | kongenit kavitation | false | Inferred relationship | Some | 5 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 4 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Fourth ventricle structure | true | Inferred relationship | Some | 6 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | true | Inferred relationship | Some | 5 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 7 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 8 | |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 8 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets