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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3448807014 | Deletion of part of chromosome 3 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3448808016 | Deletion of part of chromosome 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5905461000241113 | délétion partielle du chromosome 3 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 5905471000241117 | délétion d'une partie du chromosome 3 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deletion of part of chromosome 3 (disorder) | Is a | Anomaly of chromosome pair 3 | true | Inferred relationship | Some | ||
| Deletion of part of chromosome 3 (disorder) | Is a | Deletion of part of autosome | true | Inferred relationship | Some | ||
| Deletion of part of chromosome 3 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Deletion of part of chromosome 3 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Deletion of part of chromosome 3 (disorder) | Finding site | Chromosome pair 3 | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 3p partial monosomy syndrome (disorder) | Is a | True | Deletion of part of chromosome 3 (disorder) | Inferred relationship | Some | |
| Deletion of part of long arm of chromosome 3 (disorder) | Is a | True | Deletion of part of chromosome 3 (disorder) | Inferred relationship | Some | |
| Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by 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. | Is a | True | Deletion of part of chromosome 3 (disorder) | Inferred relationship | Some |
This concept is not in any reference sets