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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 |
| 3464854013 | Deletion of part of short arm of chromosome 6 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3464855014 | Deletion of part of short arm of chromosome 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5876061000241112 | délétion d'une partie du bras court du chromosome 6 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 5876071000241116 | délétion partielle du bras court du chromosome 6 | 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 short arm of chromosome 6 (disorder) | Is a | Deletion of part of chromosome 6 (disorder) | true | Inferred relationship | Some | ||
| Deletion of part of short arm of chromosome 6 (disorder) | Associated morphology | Deletion of short arm | false | Inferred relationship | Some | 2 | |
| Deletion of part of short arm of chromosome 6 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Deletion of part of short arm of chromosome 6 (disorder) | Finding site | Chromosome pair 6 | false | Inferred relationship | Some | 2 | |
| Deletion of part of short arm of chromosome 6 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Deletion of part of short arm of chromosome 6 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Deletion of part of short arm of chromosome 6 (disorder) | Finding site | Chromosome pair 6 | true | Inferred relationship | Some | 3 | |
| Deletion of part of short arm of chromosome 6 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Deletion of part of short arm of chromosome 6 (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| Deletion of part of short arm of chromosome 6 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. | Is a | True | Deletion of part of short arm of chromosome 6 (disorder) | Inferred relationship | Some | |
| 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. | Is a | True | Deletion of part of short arm of chromosome 6 (disorder) | Inferred relationship | Some | |
| Proximal deletion of short arm of chromosome 6 | Is a | True | Deletion of part of short arm of chromosome 6 (disorder) | Inferred relationship | Some |
This concept is not in any reference sets