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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.22-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 |
| 3448797014 | Complete monosomy of autosome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3448798016 | Complete monosomy of autosome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5876041000241111 | monosomie totale d'un autosome | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 5876051000241114 | monosomie complète d'un autosome | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Complete monosomy of autosome (disorder) | Is a | Monosomy and deletion from autosome | true | Inferred relationship | Some | ||
| Complete monosomy of autosome (disorder) | Associated morphology | Monosomy | true | Inferred relationship | Some | 1 | |
| Complete monosomy of autosome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Complete monosomy of autosome (disorder) | Finding site | Chromosome | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Complete monosomy 21 (disorder) | Is a | True | Complete monosomy of autosome (disorder) | Inferred relationship | Some | |
| A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise. | Is a | True | Complete monosomy of autosome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets