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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 |
| 3661196019 | Maternal uniparental disomy of chromosome 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3661197011 | Maternal uniparental disomy of chromosome 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3661198018 | Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3661196019 | Maternal uniparental disomy of chromosome 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3661197011 | Maternal uniparental disomy of chromosome 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3661198018 | Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3394661001000118 | Uniparentale Disomie 2, maternale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 976231000172111 | disomie uniparentale maternelle du chromosome 2 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 976231000172111 | disomie uniparentale maternelle du chromosome 2 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3394661001000118 | Uniparentale Disomie 2, 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 2 (disorder) | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Maternal uniparental disomy of chromosome 2 (disorder) | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Maternal uniparental disomy of chromosome 2 (disorder) | Is a | Anomaly of chromosome pair 2 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Maternal uniparental disomy of chromosome 2 (disorder) | Is a | Uniparental disomy of maternal origin (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Maternal uniparental disomy of chromosome 2 (disorder) | Finding site | Chromosome pair 2 (cell structure) | 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)