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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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3313220011 | Distal trisomy 10q (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313221010 | Distal trisomy 10q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313227014 | Distal duplication 10q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401816019 | Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401817011 | Distal trisomy of the long arm of chromosome 10 (10q) is characterised by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3313220011 | Distal trisomy 10q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3313220011 | Distal trisomy 10q (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313221010 | Distal trisomy 10q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3313221010 | Distal trisomy 10q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313227014 | Distal duplication 10q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3313227014 | Distal duplication 10q | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313228016 | Distal trisomy of the long arm of chromosome 10 results in characteristics of pre and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. To date, approximately 40 cases have been reported. Most cases are diagnosed in infancy or in childhood. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated portion of chromosome 10q. The duplicated region almost always includes 10qter, with the most frequent proximal breakpoint at 10q24 (with variation from q22 to q25). Interstitial duplications of 10q have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401816019 | Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401817011 | Distal trisomy of the long arm of chromosome 10 (10q) is characterised by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3441191001000116 | Trisomie 10q, distale | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 942211000172118 | trisomie distale 10q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1012791000172119 | duplication distale 10q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 942211000172118 | trisomie distale 10q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1012791000172119 | duplication distale 10q | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3441191001000116 | Trisomie 10q, distale | 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 |
| Distal trisomy 10q (disorder) | Is a | 10q partial trisomy syndrome | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Distal trisomy 10q (disorder) | Associated morphology | Partial trisomy | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Distal trisomy 10q (disorder) | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Distal trisomy 10q (disorder) | Finding site | Chromosome pair 10 | 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)