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 |
| 4164451000052115 | 3p-deletionssyndromet | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal monosomy 3p syndrome | Is a | Deletion of part of chromosome 3 (disorder) | true | Inferred relationship | Some | ||
| Distal monosomy 3p syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal monosomy 3p syndrome | Finding site | Chromosome pair 3 | true | Inferred relationship | Some | 2 | |
| Distal monosomy 3p syndrome | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 2 | |
| Distal monosomy 3p syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Distal monosomy 3p syndrome | Finding site | Chromosome pair 3 | true | Inferred relationship | Some | 1 | |
| Distal monosomy 3p syndrome | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 3p25.3 deletion syndrome (disorder) | Is a | True | Distal monosomy 3p syndrome | Inferred relationship | Some |
This concept is not in any reference sets
FHIR