Resource ValueSet/FHIR Server from package nw-gmsa.github.io#current (47 ms)
Resources that use this resource
Resources that this resource uses
Narrative
Note: links and images are rebased to the (stated) source
- Include these codes as defined in
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory| Code | Display |
| R14.1 | Acutely unwell children with a likely monogenic disorder |
| R133.1 | Arrhythmogenic right ventricular cardiomyopathy |
| R391.1 | Barth syndrome |
| R128.1 | Brugada syndrome and cardiac sodium channel disease |
| R129.1 | Catecholaminergic polymorphic VT |
| R132.1 | Dilated and Arrhythmogenic cardiomyopathy |
| R140.1 | Elastin-related phenotypes |
| R384.1 | Generalised arterial calcification in infancy |
| R131.1 | Hypertrophic cardiomyopathy |
| R127.1 | Long QT syndrome |
| R135.2 | Paediatric or syndromic cardiomyopathy |
| R135.3 | Paediatric or syndromic cardiomyopathy |
| R136.1 | Primary lymphoedema |
| R328.1 | Progressive cardiac conduction disease |
| R130.1 | Short QT syndrome |
| R138.1 | Sudden unexplained death or survivors of a cardiac event |
| R240.1 | Diagnostic testing for known variant(s) |
| R242.1 | Predictive testing for known familial variant(s) |
Source
{
"resourceType" : "ValueSet",
"id" : "GenomicRareAndInheritedDisease",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet GenomicRareAndInheritedDisease</b></p><a name=\"GenomicRareAndInheritedDisease\"> </a><a name=\"hcGenomicRareAndInheritedDisease\"> </a><a name=\"GenomicRareAndInheritedDisease-en-GB\"> </a><ul><li>Include these codes as defined in <a href=\"CodeSystem-nhsengland-genomic-test-directory.html\"><code>https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R14.461\">R14.1</a></td><td>Acutely unwell children with a likely monogenic disorder</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R133.461\">R133.1</a></td><td>Arrhythmogenic right ventricular cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R391.461\">R391.1</a></td><td>Barth syndrome</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R128.461\">R128.1</a></td><td>Brugada syndrome and cardiac sodium channel disease</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R129.461\">R129.1</a></td><td>Catecholaminergic polymorphic VT</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R132.461\">R132.1</a></td><td>Dilated and Arrhythmogenic cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R140.461\">R140.1</a></td><td>Elastin-related phenotypes</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R384.461\">R384.1</a></td><td>Generalised arterial calcification in infancy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R131.461\">R131.1</a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R127.461\">R127.1</a></td><td>Long QT syndrome</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R135.462\">R135.2</a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R135.463\">R135.3</a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R136.461\">R136.1</a></td><td>Primary lymphoedema</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R328.461\">R328.1</a></td><td>Progressive cardiac conduction disease</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R130.461\">R130.1</a></td><td>Short QT syndrome</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R138.461\">R138.1</a></td><td>Sudden unexplained death or survivors of a cardiac event</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R240.461\">R240.1</a></td><td>Diagnostic testing for known variant(s)</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R242.461\">R242.1</a></td><td>Predictive testing for known familial variant(s)</td></tr></table></li></ul></div>"
},
"url" : "https://nw-gmsa.github.io/LTW//ValueSet/GenomicRareAndInheritedDisease",
"version" : "0.0.1",
"name" : "GenomicRareAndInheritedDisease",
"title" : "Genomic Rare and Inherited Disease Test Directory",
"status" : "draft",
"experimental" : false,
"date" : "2025-04-28T04:51:38+00:00",
"publisher" : "NHS North West GMSA",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.nw-gmsa.nhs.uk/contact-us"
}
]
}
],
"description" : "- [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories)",
"jurisdiction" : [
{
"coding" : [
{
"system" : "urn:iso:std:iso:3166",
"code" : "GB",
"display" : "United Kingdom of Great Britain and Northern Ireland"
}
]
}
],
"compose" : {
"include" : [
{
"system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"concept" : [
{
"code" : "R14.1",
"display" : "Acutely unwell children with a likely monogenic disorder"
},
{
"code" : "R133.1",
"display" : "Arrhythmogenic right ventricular cardiomyopathy"
},
{
"code" : "R391.1",
"display" : "Barth syndrome"
},
{
"code" : "R128.1",
"display" : "Brugada syndrome and cardiac sodium channel disease"
},
{
"code" : "R129.1",
"display" : "Catecholaminergic polymorphic VT"
},
{
"code" : "R132.1",
"display" : "Dilated and Arrhythmogenic cardiomyopathy"
},
{
"code" : "R140.1",
"display" : "Elastin-related phenotypes"
},
{
"code" : "R384.1",
"display" : "Generalised arterial calcification in infancy"
},
{
"code" : "R131.1",
"display" : "Hypertrophic cardiomyopathy"
},
{
"code" : "R127.1",
"display" : "Long QT syndrome"
},
{
"code" : "R135.2",
"display" : "Paediatric or syndromic cardiomyopathy"
},
{
"code" : "R135.3",
"display" : "Paediatric or syndromic cardiomyopathy"
},
{
"code" : "R136.1",
"display" : "Primary lymphoedema"
},
{
"code" : "R328.1",
"display" : "Progressive cardiac conduction disease"
},
{
"code" : "R130.1",
"display" : "Short QT syndrome"
},
{
"code" : "R138.1",
"display" : "Sudden unexplained death or survivors of a cardiac event"
},
{
"code" : "R240.1",
"display" : "Diagnostic testing for known variant(s)"
},
{
"code" : "R242.1",
"display" : "Predictive testing for known familial variant(s)"
}
]
}
]
}
}
XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.
FHIR