Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3317485019 | Distal monosomy 10p (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317486018 | Distal monosomy 10p | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317487010 | Distal 10p deletion | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317488017 | Telomeric deletion 10p | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3317489013 | A rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Around 50 cases of pure distal monosomy 10p have been reported. The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3888561000052115 | distal monosomi 10p | sv | Synonym (core metadata concept) | Active | Entire term 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 10p (disorder) | Is a | 10p partial monosomy syndrome | true | Inferred relationship | Some | ||
| Distal monosomy 10p (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Distal monosomy 10p (disorder) | Finding site | Chromosome pair 10 (cell structure) | true | Inferred relationship | Some | 2 | |
| Distal monosomy 10p (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Distal monosomy 10p (disorder) | Finding site | Chromosome pair 10 (cell structure) | true | Inferred relationship | Some | 3 | |
| Distal monosomy 10p (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Distal monosomy 10p (disorder) | Associated morphology | Deletion of short arm | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR