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 |
1768867010 | Congenital fibrosis syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
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 | Only initial character 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 | Only initial character 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 |
526251000274116 | Kongenitale extraokuläre Muskelfibrose | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3452511001000114 | Extraokuläre Muskelfibrose, kongenitale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
85111000077112 | syndrome de fibrose congénitale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
85111000077112 | syndrome de fibrose congénitale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
526251000274116 | Kongenitale extraokuläre Muskelfibrose | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3452511001000114 | Extraokuläre Muskelfibrose, kongenitale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
General fibrosis syndrome | Is a | False | Congenital fibrosis syndrome (disorder) | Inferred relationship | Existential restriction modifier (core metadata concept) | |
Strabismus fixus | Is a | False | Congenital fibrosis syndrome (disorder) | Inferred relationship | Existential restriction modifier (core metadata concept) | |
Vertical retraction syndrome | Is a | True | Congenital fibrosis syndrome (disorder) | Inferred relationship | Existential restriction modifier (core metadata concept) | |
Congenital fibrosis of inferior rectus muscle | Is a | True | Congenital fibrosis syndrome (disorder) | Inferred relationship | Existential restriction modifier (core metadata concept) |
This concept is not in any reference sets