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 |
| 3759358013 | Syndactyly, nystagmus syndrome due to trisomy 2q31.1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759359017 | Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759361014 | Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759360010 | A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Is a | Pendular nystagmus | true | Inferred relationship | Some | ||
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 2 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Is a | Congenital nystagmus | true | Inferred relationship | Some | ||
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Finding site | Digit structure | true | Inferred relationship | Some | 2 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Is a | 2q partial trisomy syndrome | true | Inferred relationship | Some | ||
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Is a | Syndactyly (disorder) | true | Inferred relationship | Some | ||
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Finding site | Eye region structure (body structure) | true | Inferred relationship | Some | 3 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Interprets | Ocular motility observable | true | Inferred relationship | Some | 4 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Finding site | Chromosome pair 2 | true | Inferred relationship | Some | 1 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Associated morphology | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Syndactyly, nystagmus syndrome due to 2q31.1 microduplication | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR