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) | Is a | Congenital anomaly of tongue | false | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Is a | Congenital plicated tongue (disorder) | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Is a | External ophthalmoplegia | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Is a | Congenital nuclear ophthalmoplegia | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Finding site | Eye 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) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Finding site | Eyelid structure | true | Inferred relationship | Some | 4 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Finding site | Structure of dorsum of anterior tongue | true | Inferred relationship | Some | 1 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Associated morphology | Fissure | true | Inferred relationship | Some | 1 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Finding site | Medial longitudinal fasciculus structure (body 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) | Is a | Congenital structural abnormality of orbit proper (disorder) | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Finding site | Medial longitudinal fasciculus structure (body structure) | true | Inferred relationship | Some | 2 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Finding site | 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) | Is a | Congenital anomaly of musculoskeletal system | false | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Is a | Combined malformation of central nervous system and skeletal muscle (disorder) | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Interprets | Intellectual ability (observable entity) | false | Inferred relationship | Some | 5 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | false | Inferred relationship | Some | 6 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Is a | Paralysis of tongue | true | Inferred relationship | Some | ||
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 8 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 7 | |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets