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 |
| 1003681000172119 | duplication non distale 13q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 1013761000172117 | trisomie non distale 13q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3655994013 | Non-distal trisomy 13q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655995014 | Non-distal duplication 13q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655996010 | Non-distal trisomy 13q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655997018 | Non-telomeric trisomy 13q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 767491000241119 | trisomie non distale 13q (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3656002014 | A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3656003016 | A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| trisomie non distale 13q | est un(e) (attribut) | 13q partial trisomy syndrome | true | Inferred relationship | Some | ||
| trisomie non distale 13q | morphologie associée (attribut) | Partial trisomy | true | Inferred relationship | Some | 1 | |
| trisomie non distale 13q | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| trisomie non distale 13q | localisation d'une constatation (attribut) | Chromosome pair 13 (cell structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR