Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1002701000172114 | syndrome de microduplication 4p16.3 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3451922019 | 4p16.3 microduplication syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451923012 | 4p16.3 microduplication syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451924018 | Distal trisomy 4p | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 762331000241113 | syndrome de microduplication 4p16.3 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 997511000172112 | duplication distale 4p | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3451925017 | A rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally with characteristics of psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome de microduplication 4p16.3 | est un(e) (attribut) | 4p partial trisomy syndrome (disorder) | true | Inferred relationship | Some | ||
| syndrome de microduplication 4p16.3 | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 1 | |
| syndrome de microduplication 4p16.3 | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| syndrome de microduplication 4p16.3 | localisation d'une constatation (attribut) | Chromosome pair 4 (cell structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR