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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 |
| 3701284010 | Maternal uniparental disomy of chromosome 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701285011 | Maternal uniparental disomy of chromosome 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5404808012 | Maternal uniparental disomy of chromosome 1 is a 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 |
| 3701284010 | Maternal uniparental disomy of chromosome 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701285011 | Maternal uniparental disomy of chromosome 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701286012 | A uniparental disomy of chromosome 1 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 the mother is a carrier. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404808012 | Maternal uniparental disomy of chromosome 1 is a 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 |
| 3432911001000118 | Uniparentale Disomie 1, maternale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 981921000172117 | disomie uniparentale d'origine maternelle du chromosome 1 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 981921000172117 | disomie uniparentale d'origine maternelle du chromosome 1 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3432911001000118 | Uniparentale Disomie 1, 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 1 is a 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. | Is a | Anomaly of chromosome pair 1 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Maternal uniparental disomy of chromosome 1 is a 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. | Finding site | Chromosome pair 1 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Maternal uniparental disomy of chromosome 1 is a 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. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Maternal uniparental disomy of chromosome 1 is a 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. | Associated morphology | Alteration of chromosome structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Maternal uniparental disomy of chromosome 1 is a 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. | Is a | Uniparental disomy of maternal origin (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)