A Set of Codesystems for Gender
0.1.0 - ci-build
A Set of Codesystems for Gender
0.1.0 - ci-build
A Set of Codesystems for Gender, published by FO. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/frankoemig/gender/ and changes regularly. See the Directory of published versions
| Active as of 2024-04-16 |
{
"resourceType" : "CodeSystem",
"id" : "GeneticGender",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem GeneticGender</b></p><a name=\"GeneticGender\"> </a><a name=\"hcGeneticGender\"> </a><p><b>Properties</b></p><p><b>This code system defines the following properties for its concepts</b></p><table class=\"grid\"><tr><td><b>Name</b></td><td><b>Code</b></td><td><b>URI</b></td><td><b>Type</b></td><td><b>Description</b></td><td><b>Value Set</b></td></tr><tr><td>icd</td><td>icd</td><td>http://fhir.de/CodeSystem/dimdi/icd-10-gm</td><td>code</td><td>ICD</td><td><code>http://fhir.de/ValueSet/dimdi/icd-10-gm</code></td></tr></table><p><b>Concepts</b></p><p>This case-insensitive code system <code>http://gender.oemig.de/fhir/CodeSystem/GeneticGender</code> defines the following codes in a Is-A hierarchy:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td><td><b>icd</b></td></tr><tr><td style=\"white-space:nowrap\">46_XX<a name=\"GeneticGender-46_XX\"> </a></td><td>46,XX</td><td>Caryotype (female)</td><td>Q99.0</td></tr><tr><td style=\"white-space:nowrap\">46_XY<a name=\"GeneticGender-46_XY\"> </a></td><td>46,XY</td><td>Caryotype (male)</td><td>Q99.0</td></tr><tr><td style=\"white-space:nowrap\">45_X<a name=\"GeneticGender-45_X\"> </a></td><td>45,X</td><td>Turner-Syndrome with female phenotype</td><td>Q96</td></tr><tr><td style=\"white-space:nowrap\">47_XXY<a name=\"GeneticGender-47_XXY\"> </a></td><td>47,XXY</td><td>Klinefelter-Syndrome with male phenotype</td><td>Q98.0</td></tr><tr><td style=\"white-space:nowrap\">48_XXXY<a name=\"GeneticGender-48_XXXY\"> </a></td><td>48,XXXY</td><td>Klinefelter-Syndrome with male phenotype (rare)</td><td/></tr><tr><td style=\"white-space:nowrap\">49_XXXYY<a name=\"GeneticGender-49_XXXYY\"> </a></td><td>49,XXXYY</td><td>Klinefelter-Syndrome</td><td/></tr><tr><td style=\"white-space:nowrap\">49_XXXXY<a name=\"GeneticGender-49_XXXXY\"> </a></td><td>49,XXXXY</td><td>Klinefelter-Syndrome with male phenotype (rare)</td><td/></tr><tr><td style=\"white-space:nowrap\">47_XXX<a name=\"GeneticGender-47_XXX\"> </a></td><td>47,XXX</td><td>Triplo-X-Syndrome</td><td>Q97.0</td></tr><tr><td style=\"white-space:nowrap\">mos45_X46_XX<a name=\"GeneticGender-mos45_X46_XX\"> </a></td><td>mos45,X/46,XX</td><td>Mosaic</td><td>Q96.3</td></tr><tr><td style=\"white-space:nowrap\">mos45_X46_XY<a name=\"GeneticGender-mos45_X46_XY\"> </a></td><td>mos45,X/46,XY</td><td>Mosaic</td><td>Q96.4</td></tr><tr><td style=\"white-space:nowrap\">chi46_XX46_XY<a name=\"GeneticGender-chi46_XX46_XY\"> </a></td><td>chi46,XX/46,XY</td><td>Chimersm</td><td>Q99.0</td></tr><tr><td style=\"white-space:nowrap\">47_22<a name=\"GeneticGender-47_22\"> </a></td><td>47,22</td><td>Cat-Eye Syndrome (Trisomy 22)</td><td/></tr><tr><td style=\"white-space:nowrap\">47_21<a name=\"GeneticGender-47_21\"> </a></td><td>47,21</td><td>Down-Syndrome (Trisomy 21)</td><td>Q90</td></tr><tr><td style=\"white-space:nowrap\">47_18<a name=\"GeneticGender-47_18\"> </a></td><td>47,18</td><td>Edwards-Syndrome (Trisomy 18)</td><td>Q91.0, Q91.1, Q91.2, Q91.3</td></tr><tr><td style=\"white-space:nowrap\">47_16<a name=\"GeneticGender-47_16\"> </a></td><td>47,16</td><td>Trisomy 16</td><td/></tr><tr><td style=\"white-space:nowrap\">47_13<a name=\"GeneticGender-47_13\"> </a></td><td>47,13</td><td>Pätau-Syndrome (Triosomy 13)</td><td>Q91.4, Q91.5, Q91.6</td></tr><tr><td style=\"white-space:nowrap\">47_9<a name=\"GeneticGender-47_9\"> </a></td><td>47,9</td><td>Trisomy 9</td><td>Q92</td></tr><tr><td style=\"white-space:nowrap\">47_8<a name=\"GeneticGender-47_8\"> </a></td><td>47,8</td><td>Warkany Syndrome 2 (Trisomy 8)</td><td>Q92</td></tr><tr><td style=\"white-space:nowrap\">48_XXXX<a name=\"GeneticGender-48_XXXX\"> </a></td><td>48,XXXX</td><td>Tetrasomy X</td><td/></tr><tr><td style=\"white-space:nowrap\">49_XXXXX<a name=\"GeneticGender-49_XXXXX\"> </a></td><td>49,XXXXX</td><td>Pentasomy X</td><td/></tr><tr><td style=\"white-space:nowrap\">47_XYY<a name=\"GeneticGender-47_XYY\"> </a></td><td>47,XYY</td><td>XYY-Syndrome</td><td/></tr><tr><td style=\"white-space:nowrap\">48_XXYY<a name=\"GeneticGender-48_XXYY\"> </a></td><td>48,XXYY</td><td>Y-Polysomy</td><td/></tr><tr><td style=\"white-space:nowrap\">49_XYYYY<a name=\"GeneticGender-49_XYYYY\"> </a></td><td>49,XYYYY</td><td>Y-Polysomy</td><td/></tr></table></div>"
},
"url" : "http://gender.oemig.de/fhir/CodeSystem/GeneticGender",
"version" : "0.1.0",
"name" : "GeneticGenderCS",
"title" : "Genetic Gender",
"status" : "active",
"experimental" : false,
"date" : "2024-04-16",
"publisher" : "FO",
"contact" : [
{
"name" : "FO",
"telecom" : [
{
"system" : "url",
"value" : "http://www.oemig.de"
}
]
}
],
"description" : "genetic gender",
"copyright" : "FO",
"caseSensitive" : false,
"valueSet" : "http://gender.oemig.de/fhir/ValueSet/GeneticGender",
"hierarchyMeaning" : "is-a",
"compositional" : false,
"versionNeeded" : false,
"content" : "complete",
"count" : 23,
"property" : [
{
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/codesystem-property-valueset",
"valueCanonical" : "http://fhir.de/ValueSet/dimdi/icd-10-gm"
}
],
"code" : "icd",
"uri" : "http://fhir.de/CodeSystem/dimdi/icd-10-gm",
"description" : "ICD",
"type" : "code"
}
],
"concept" : [
{
"code" : "46_XX",
"display" : "46,XX",
"definition" : "Caryotype (female)",
"property" : [
{
"code" : "icd",
"valueCode" : "Q99.0"
}
]
},
{
"code" : "46_XY",
"display" : "46,XY",
"definition" : "Caryotype (male)",
"property" : [
{
"code" : "icd",
"valueCode" : "Q99.0"
}
]
},
{
"code" : "45_X",
"display" : "45,X",
"definition" : "Turner-Syndrome with female phenotype",
"property" : [
{
"code" : "icd",
"valueCode" : "Q96"
}
]
},
{
"code" : "47_XXY",
"display" : "47,XXY",
"definition" : "Klinefelter-Syndrome with male phenotype",
"property" : [
{
"code" : "icd",
"valueCode" : "Q98.0"
}
]
},
{
"code" : "48_XXXY",
"display" : "48,XXXY",
"definition" : "Klinefelter-Syndrome with male phenotype (rare)"
},
{
"code" : "49_XXXYY",
"display" : "49,XXXYY",
"definition" : "Klinefelter-Syndrome"
},
{
"code" : "49_XXXXY",
"display" : "49,XXXXY",
"definition" : "Klinefelter-Syndrome with male phenotype (rare)"
},
{
"code" : "47_XXX",
"display" : "47,XXX",
"definition" : "Triplo-X-Syndrome",
"property" : [
{
"code" : "icd",
"valueCode" : "Q97.0"
}
]
},
{
"code" : "mos45_X46_XX",
"display" : "mos45,X/46,XX",
"definition" : "Mosaic",
"property" : [
{
"code" : "icd",
"valueCode" : "Q96.3"
}
]
},
{
"code" : "mos45_X46_XY",
"display" : "mos45,X/46,XY",
"definition" : "Mosaic",
"property" : [
{
"code" : "icd",
"valueCode" : "Q96.4"
}
]
},
{
"code" : "chi46_XX46_XY",
"display" : "chi46,XX/46,XY",
"definition" : "Chimersm",
"property" : [
{
"code" : "icd",
"valueCode" : "Q99.0"
}
]
},
{
"code" : "47_22",
"display" : "47,22",
"definition" : "Cat-Eye Syndrome (Trisomy 22)"
},
{
"code" : "47_21",
"display" : "47,21",
"definition" : "Down-Syndrome (Trisomy 21)",
"property" : [
{
"code" : "icd",
"valueCode" : "Q90"
}
]
},
{
"code" : "47_18",
"display" : "47,18",
"definition" : "Edwards-Syndrome (Trisomy 18)",
"property" : [
{
"code" : "icd",
"valueCode" : "Q91.0"
},
{
"code" : "icd",
"valueCode" : "Q91.1"
},
{
"code" : "icd",
"valueCode" : "Q91.2"
},
{
"code" : "icd",
"valueCode" : "Q91.3"
}
]
},
{
"code" : "47_16",
"display" : "47,16",
"definition" : "Trisomy 16"
},
{
"code" : "47_13",
"display" : "47,13",
"definition" : "Pätau-Syndrome (Triosomy 13)",
"property" : [
{
"code" : "icd",
"valueCode" : "Q91.4"
},
{
"code" : "icd",
"valueCode" : "Q91.5"
},
{
"code" : "icd",
"valueCode" : "Q91.6"
}
]
},
{
"code" : "47_9",
"display" : "47,9",
"definition" : "Trisomy 9",
"property" : [
{
"code" : "icd",
"valueCode" : "Q92"
}
]
},
{
"code" : "47_8",
"display" : "47,8",
"definition" : "Warkany Syndrome 2 (Trisomy 8)",
"property" : [
{
"code" : "icd",
"valueCode" : "Q92"
}
]
},
{
"code" : "48_XXXX",
"display" : "48,XXXX",
"definition" : "Tetrasomy X"
},
{
"code" : "49_XXXXX",
"display" : "49,XXXXX",
"definition" : "Pentasomy X"
},
{
"code" : "47_XYY",
"display" : "47,XYY",
"definition" : "XYY-Syndrome"
},
{
"code" : "48_XXYY",
"display" : "48,XXYY",
"definition" : "Y-Polysomy"
},
{
"code" : "49_XYYYY",
"display" : "49,XYYYY",
"definition" : "Y-Polysomy"
}
]
}