Status: current, 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 |
| 3755126019 | Familial congenital palsy of trochlear nerve (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755127011 | Familial congenital palsy of trochlear nerve | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755128018 | A rare genetic neuro-ophthalmological disease with characteristics of congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (for example hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases 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 |
| Familial congenital palsy of trochlear nerve (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Familial congenital palsy of trochlear nerve (disorder) | Is a | Fourth nerve palsy | false | Inferred relationship | Some | ||
| Familial congenital palsy of trochlear nerve (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Familial congenital palsy of trochlear nerve (disorder) | Is a | Familial disease | true | Inferred relationship | Some | ||
| Familial congenital palsy of trochlear nerve (disorder) | Finding site | Trochlear nerve structure | true | Inferred relationship | Some | 1 | |
| Familial congenital palsy of trochlear nerve (disorder) | Is a | Congenital palsy of trochlear nerve (disorder) | true | Inferred relationship | Some | ||
| Familial congenital palsy of trochlear nerve (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial congenital palsy of trochlear nerve (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Familial congenital palsy of trochlear nerve (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR