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 |
| 3638358012 | Distal trisomy 6q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3638359016 | Distal trisomy 6q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3638360014 | Distal duplication 6q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 765721000241117 | trisomie distale 6q (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 929061000172119 | duplication distale 6q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 954091000172112 | trisomie distale 6q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3638361013 | A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6. The disorder has a highly variable phenotype with typical characteristics of growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity and seizures are other features that have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal trisomy 6q | est un(e) (attribut) | 6q partial trisomy syndrome | true | Inferred relationship | Some | ||
| Distal trisomy 6q | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 1 | |
| Distal trisomy 6q | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Distal trisomy 6q | localisation d'une constatation (attribut) | Chromosome pair 6 (cell structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR