Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3756547016 | Pontine tegmental cap dysplasia | en | Synonym | Active | Case insensitive | SNOMED CT core |
3756548014 | Pontine tegmental cap dysplasia (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3756549018 | PTCD - pontine tegmental cap dysplasia | en | Synonym | Active | Case sensitive | SNOMED CT core |
3756550018 | A rare central nervous system malformation with characteristics of a specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pontine tegmental cap dysplasia | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Pontine tegmental cap dysplasia | Is a | Dysgenesis of the brainstem | true | Inferred relationship | Some | ||
Pontine tegmental cap dysplasia | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Pontine tegmental cap dysplasia | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Pontine tegmental cap dysplasia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Pontine tegmental cap dysplasia | Finding site | Structure of tegmental portion of pons | true | Inferred relationship | Some | 1 | |
Pontine tegmental cap dysplasia | Is a | Finding of head region | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set