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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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3305744017 | 8p23.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305745016 | 8p23.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305746015 | Monosomy 8p23.1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401317017 | 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401318010 | 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterised by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3305744017 | 8p23.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3305744017 | 8p23.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305745016 | 8p23.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3305745016 | 8p23.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305746015 | Monosomy 8p23.1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3305746015 | Monosomy 8p23.1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305747012 | A partial deletion of the short arm of chromosome 8 with manifestations of low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. The prevalence is unknown but 8p23.1 deletions are rare. The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most 8p23.1 deletions occur de novo, however, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401317017 | 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401318010 | 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterised by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3385501001000115 | Mikrodeletionssyndrom 8p23.1 | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 951191000172110 | del(8)(p23.1) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 996161000172118 | syndrome de microdélétion 8p23.1 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 951191000172110 | del(8)(p23.1) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 996161000172118 | syndrome de microdélétion 8p23.1 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3385501001000115 | Mikrodeletionssyndrom 8p23.1 | 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 |
| 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | Is a | 8p partial monosomy syndrome (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | Associated morphology | Deletion of short arm | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | Finding site | Chromosome pair 8 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. | Finding site | Chromosome pair 8 | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)