Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
345436010 | Congenital nuclear ophthalmoplegia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
618350017 | Congenital nuclear ophthalmoplegia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
1671821000005118 | kongenit nukleær oftalmoplegi | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
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. | Is a | True | Congenital nuclear ophthalmoplegia | Inferred relationship | Some |
This concept is not in any reference sets