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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-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 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755234019 | Maternal uniparental disomy of chromosome 21 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755235018 | Maternal uniparental disomy of chromosome 21 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755236017 | UPD(21)mat - maternal uniparental disomy of chromosome 21 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755237014 | Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755234019 | Maternal uniparental disomy of chromosome 21 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755235018 | Maternal uniparental disomy of chromosome 21 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755236017 | UPD(21)mat - maternal uniparental disomy of chromosome 21 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755237014 | Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425081001000116 | Uniparentale Disomie 21, maternale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6327051000241112 | disomie uniparentale maternelle du chromosome 21 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6327061000241110 | disomie uniparentale chez la mère du chromosome 21 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6327051000241112 | disomie uniparentale maternelle du chromosome 21 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6327061000241110 | disomie uniparentale chez la mère du chromosome 21 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3425081001000116 | Uniparentale Disomie 21, maternale | 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 |
| Maternal uniparental disomy of chromosome 21 | Is a | Anomaly of chromosome pair 21 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Maternal uniparental disomy of chromosome 21 | Finding site | Chromosome pair 21 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Maternal uniparental disomy of chromosome 21 | Is a | Uniparental disomy of maternal origin (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Maternal uniparental disomy of chromosome 21 | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Maternal uniparental disomy of chromosome 21 | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets