Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4571150017 | 7p partial monosomy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4571151018 | 7p partial monosomy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1991091000005117 | partiel monosomi 7p-syndrom | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis. | Is a | True | 7p partial monosomy (disorder) | Inferred relationship | Some | |
| 7p12-p14 deletion syndrome | Is a | True | 7p partial monosomy (disorder) | Inferred relationship | Some | |
| 7p21.1 deletion syndrome | Is a | True | 7p partial monosomy (disorder) | Inferred relationship | Some | |
| Proximal deletion of short arm of chromosome 7 (disorder) | Is a | True | 7p partial monosomy (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR