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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
|
FHIR Version n/a
User: [n/a]
Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3701938013 | Paternal uniparental disomy of chromosome 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701939017 | Paternal uniparental disomy of chromosome 6 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5404870018 | Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404871019 | Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3701938013 | Paternal uniparental disomy of chromosome 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701939017 | Paternal uniparental disomy of chromosome 6 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701940015 | Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin with characteristics of intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404870018 | Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404871019 | Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3412061001000114 | Uniparentale Disomie 6, paternale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 968181000172114 | disomie uniparentale paternelle du chromosome 6 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 968181000172114 | disomie uniparentale paternelle du chromosome 6 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3412061001000114 | Uniparentale Disomie 6, paternale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | Finding site | Chromosome pair 6 (cell structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | Is a | Anomaly of chromosome pair 6 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | Is a | Uniparental disomy of paternal origin (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)