Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4570721014 | Chromosome Xq28 trisomy (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4570722019 | Chromosome Xq28 trisomy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4570723012 | Trisomy Xq28 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3318426018 | Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The most frequently reported distal duplications involve the Xq28 segment and yield a phenotype including distinctive facial features, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and susceptibility to infections. Xq duplications may be caused either by an intrachromosomal duplication or by an unbalanced X/Y or X/autosome translocation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3909931000052115 | trisomi Xq28-syndrom | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) | Is a | True | Chromosome Xq28 trisomy (disorder) | Inferred relationship | Some | |
| Distal Xq28 microduplication syndrome | Is a | True | Chromosome Xq28 trisomy (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR