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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 |
| 3467373013 | Deletion of part of short arm of chromosome 20 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3467374019 | Deletion of part of short arm of chromosome 20 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5905511000241110 | délétion d'une partie du bras court du chromosome 20 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 5905521000241115 | délétion partielle du bras court du chromosome 20 | 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 20 (disorder) | Is a | Deletion of part of chromosome 20 (disorder) | true | Inferred relationship | Some | ||
| Deletion of part of short arm of chromosome 20 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Deletion of part of short arm of chromosome 20 (disorder) | Finding site | Chromosome pair 20 | true | Inferred relationship | Some | 2 | |
| Deletion of part of short arm of chromosome 20 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Deletion of part of short arm of chromosome 20 (disorder) | Finding site | Chromosome pair 20 | false | Inferred relationship | Some | 3 | |
| Deletion of part of short arm of chromosome 20 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Deletion of part of short arm of chromosome 20 (disorder) | Associated morphology | Deletion of short arm | false | Inferred relationship | Some | 3 | |
| Deletion of part of short arm of chromosome 20 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Deletion of part of short arm of chromosome 20 (disorder) | Finding site | Short arm of chromosome | true | Inferred relationship | Some | 1 | |
| Deletion of part of short arm of chromosome 20 (disorder) | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. | Is a | True | Deletion of part of short arm of chromosome 20 (disorder) | Inferred relationship | Some | |
| 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. | Is a | True | Deletion of part of short arm of chromosome 20 (disorder) | Inferred relationship | Some | |
| 20p12.2 deletion syndrome (disorder) | Is a | True | Deletion of part of short arm of chromosome 20 (disorder) | Inferred relationship | Some |
This concept is not in any reference sets