Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3638366015 | Distal trisomy 8q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638367012 | Distal trisomy 8q (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638368019 | Distal duplication 8q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 765741000241113 | trisomie distale 8q (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 941951000172119 | duplication distale 8q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 973461000172114 | trisomie distale 8q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3638369010 | A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8. The disorder has a highly variable phenotype with typical characteristics of growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects, skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss and seizures). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal trisomy 8q | est un(e) (attribut) | 8q partial trisomy syndrome | true | Inferred relationship | Some | ||
| Distal trisomy 8q | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Distal trisomy 8q | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Distal trisomy 8q | localisation d'une constatation (attribut) | Chromosome pair 8 (cell structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR