Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
1768867010 | Congenital fibrosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
1780154019 | Congenital fibrosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3010207014 | Congenital fibrosis of extraocular muscles | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5036156015 | A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5881951000172117 | syndrome de fibrose congénitale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4502661000172111 | CFEOM | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
4502671000172119 | aangeboren fibrose van extraoculaire spieren | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4502681000172116 | congenitale fibrose van extraoculaire spieren | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
General fibrosis syndrome | Is a | False | Congenital fibrosis syndrome (disorder) | Inferred relationship | Some | |
Strabismus fixus | Is a | False | Congenital fibrosis syndrome (disorder) | Inferred relationship | Some | |
Vertical retraction syndrome | Is a | True | Congenital fibrosis syndrome (disorder) | Inferred relationship | Some | |
Congenital fibrosis of inferior rectus muscle (disorder) | Is a | True | Congenital fibrosis syndrome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets