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 |
3756887017 | Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3756888010 | Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3756889019 | Levic Stefanovic Nikolic syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3756890011 | A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of tongue | false | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | est un(e) (attribut) | Congenital plicated tongue | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | est un(e) (attribut) | External ophthalmoplegia | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | est un(e) (attribut) | Congenital nuclear ophthalmoplegia | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | localisation d'une constatation (attribut) | Structure of eye proper (body structure) | false | Inferred relationship | Some | 2 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | localisation d'une constatation (attribut) | paupière (structure corporelle) | true | Inferred relationship | Some | 4 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | localisation d'une constatation (attribut) | Structure of dorsum of anterior tongue | true | Inferred relationship | Some | 1 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | morphologie associée (attribut) | Fissure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | localisation d'une constatation (attribut) | Medial longitudinal fasciculus structure | false | Inferred relationship | Some | 3 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of orbit proper (disorder) | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | localisation d'une constatation (attribut) | Medial longitudinal fasciculus structure | true | Inferred relationship | Some | 2 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | localisation d'une constatation (attribut) | Structure of extraocular muscle | true | Inferred relationship | Some | 3 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of musculoskeletal system | false | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | est un(e) (attribut) | Combined malformation of central nervous system and skeletal muscle (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets