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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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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 |
| 3759925010 | Paternal uniparental disomy of chromosome X | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759926011 | UPD(X)pat - paternal uniparental disomy of chromosome X | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759927019 | Paternal uniparental disomy of chromosome X (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759928012 | A uniparental disomy of paternal 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 father is a carrier and specific phenotype depends on the inherited disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759925010 | Paternal uniparental disomy of chromosome X | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759926011 | UPD(X)pat - paternal uniparental disomy of chromosome X | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759927019 | Paternal uniparental disomy of chromosome X (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759928012 | A uniparental disomy of paternal 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 father is a carrier and specific phenotype depends on the inherited disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3396671001000115 | Uniparentale Disomie X, paternale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6456461000241112 | disomie uniparentale paternelle du chromosome X | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6456461000241112 | disomie uniparentale paternelle du chromosome X | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3396671001000115 | Uniparentale Disomie X, 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 X | Is a | Anomaly of chromosome X | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Paternal uniparental disomy of chromosome X | Is a | Uniparental disomy of paternal origin (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Paternal uniparental disomy of chromosome X | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Paternal uniparental disomy of chromosome X | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Paternal uniparental disomy of chromosome X | Finding site | Sex chromosome X (cell structure) | 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