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 |
| 3642742016 | Distal monosomy 3p syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642743014 | Distal 3p deletion | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642744015 | Distal monosomy 3p | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642745019 | Distal monosomy 3p syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642746018 | 3p syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642747010 | A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 3. The syndrome has a highly variable phenotype with typical characteristics of pre and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal monosomy 3p syndrome | est un(e) (attribut) | Deletion of part of chromosome 3 (disorder) | true | Inferred relationship | Some | ||
| Distal monosomy 3p syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Distal monosomy 3p syndrome | localisation d'une constatation (attribut) | Chromosome pair 3 (cell structure) | true | Inferred relationship | Some | 2 | |
| Distal monosomy 3p syndrome | morphologie associée (attribut) | Deletion of short arm | true | Inferred relationship | Some | 2 | |
| Distal monosomy 3p syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Distal monosomy 3p syndrome | localisation d'une constatation (attribut) | Chromosome pair 3 (cell structure) | true | Inferred relationship | Some | 1 | |
| Distal monosomy 3p syndrome | morphologie associée (attribut) | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 3p25.3 deletion syndrome (disorder) | est un(e) (attribut) | True | Distal monosomy 3p syndrome | Inferred relationship | Some |
This concept is not in any reference sets
FHIR