Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756547016 | Pontine tegmental cap dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756548014 | Pontine tegmental cap dysplasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756549018 | PTCD - pontine tegmental cap dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Pontine tegmental cap dysplasia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Pontine tegmental cap dysplasia | est un(e) (attribut) | Dysgenesis of the brainstem | true | Inferred relationship | Some | ||
| Pontine tegmental cap dysplasia | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Pontine tegmental cap dysplasia | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Pontine tegmental cap dysplasia | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Pontine tegmental cap dysplasia | localisation d'une constatation (attribut) | Structure of tegmental portion of pons | true | Inferred relationship | Some | 1 | |
| Pontine tegmental cap dysplasia | est un(e) (attribut) | Finding of head region | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR