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 |
<CodeSystem xmlns="http://hl7.org/fhir">
<id value="GeneticGender"/>
<text>
<status value="generated"/>
<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>
</text>
<url value="http://gender.oemig.de/fhir/CodeSystem/GeneticGender"/>
<version value="0.1.0"/>
<name value="GeneticGenderCS"/>
<title value="Genetic Gender"/>
<status value="active"/>
<experimental value="false"/>
<date value="2024-04-16"/>
<publisher value="FO"/>
<contact>
<name value="FO"/>
<telecom>
<system value="url"/>
<value value="http://www.oemig.de"/>
</telecom>
</contact>
<description value="genetic gender"/>
<copyright value="FO"/>
<caseSensitive value="false"/>
<valueSet value="http://gender.oemig.de/fhir/ValueSet/GeneticGender"/>
<hierarchyMeaning value="is-a"/>
<compositional value="false"/>
<versionNeeded value="false"/>
<content value="complete"/>
<count value="23"/>
<property>
<extension
url="http://hl7.org/fhir/StructureDefinition/codesystem-property-valueset">
<valueCanonical value="http://fhir.de/ValueSet/dimdi/icd-10-gm"/>
</extension>
<code value="icd"/>
<uri value="http://fhir.de/CodeSystem/dimdi/icd-10-gm"/>
<description value="ICD"/>
<type value="code"/>
</property>
<concept>
<code value="46_XX"/>
<display value="46,XX"/>
<definition value="Caryotype (female)"/>
<property>
<code value="icd"/>
<valueCode value="Q99.0"/>
</property>
</concept>
<concept>
<code value="46_XY"/>
<display value="46,XY"/>
<definition value="Caryotype (male)"/>
<property>
<code value="icd"/>
<valueCode value="Q99.0"/>
</property>
</concept>
<concept>
<code value="45_X"/>
<display value="45,X"/>
<definition value="Turner-Syndrome with female phenotype"/>
<property>
<code value="icd"/>
<valueCode value="Q96"/>
</property>
</concept>
<concept>
<code value="47_XXY"/>
<display value="47,XXY"/>
<definition value="Klinefelter-Syndrome with male phenotype"/>
<property>
<code value="icd"/>
<valueCode value="Q98.0"/>
</property>
</concept>
<concept>
<code value="48_XXXY"/>
<display value="48,XXXY"/>
<definition value="Klinefelter-Syndrome with male phenotype (rare)"/>
</concept>
<concept>
<code value="49_XXXYY"/>
<display value="49,XXXYY"/>
<definition value="Klinefelter-Syndrome"/>
</concept>
<concept>
<code value="49_XXXXY"/>
<display value="49,XXXXY"/>
<definition value="Klinefelter-Syndrome with male phenotype (rare)"/>
</concept>
<concept>
<code value="47_XXX"/>
<display value="47,XXX"/>
<definition value="Triplo-X-Syndrome"/>
<property>
<code value="icd"/>
<valueCode value="Q97.0"/>
</property>
</concept>
<concept>
<code value="mos45_X46_XX"/>
<display value="mos45,X/46,XX"/>
<definition value="Mosaic"/>
<property>
<code value="icd"/>
<valueCode value="Q96.3"/>
</property>
</concept>
<concept>
<code value="mos45_X46_XY"/>
<display value="mos45,X/46,XY"/>
<definition value="Mosaic"/>
<property>
<code value="icd"/>
<valueCode value="Q96.4"/>
</property>
</concept>
<concept>
<code value="chi46_XX46_XY"/>
<display value="chi46,XX/46,XY"/>
<definition value="Chimersm"/>
<property>
<code value="icd"/>
<valueCode value="Q99.0"/>
</property>
</concept>
<concept>
<code value="47_22"/>
<display value="47,22"/>
<definition value="Cat-Eye Syndrome (Trisomy 22)"/>
</concept>
<concept>
<code value="47_21"/>
<display value="47,21"/>
<definition value="Down-Syndrome (Trisomy 21)"/>
<property>
<code value="icd"/>
<valueCode value="Q90"/>
</property>
</concept>
<concept>
<code value="47_18"/>
<display value="47,18"/>
<definition value="Edwards-Syndrome (Trisomy 18)"/>
<property>
<code value="icd"/>
<valueCode value="Q91.0"/>
</property>
<property>
<code value="icd"/>
<valueCode value="Q91.1"/>
</property>
<property>
<code value="icd"/>
<valueCode value="Q91.2"/>
</property>
<property>
<code value="icd"/>
<valueCode value="Q91.3"/>
</property>
</concept>
<concept>
<code value="47_16"/>
<display value="47,16"/>
<definition value="Trisomy 16"/>
</concept>
<concept>
<code value="47_13"/>
<display value="47,13"/>
<definition value="Pätau-Syndrome (Triosomy 13)"/>
<property>
<code value="icd"/>
<valueCode value="Q91.4"/>
</property>
<property>
<code value="icd"/>
<valueCode value="Q91.5"/>
</property>
<property>
<code value="icd"/>
<valueCode value="Q91.6"/>
</property>
</concept>
<concept>
<code value="47_9"/>
<display value="47,9"/>
<definition value="Trisomy 9"/>
<property>
<code value="icd"/>
<valueCode value="Q92"/>
</property>
</concept>
<concept>
<code value="47_8"/>
<display value="47,8"/>
<definition value="Warkany Syndrome 2 (Trisomy 8)"/>
<property>
<code value="icd"/>
<valueCode value="Q92"/>
</property>
</concept>
<concept>
<code value="48_XXXX"/>
<display value="48,XXXX"/>
<definition value="Tetrasomy X"/>
</concept>
<concept>
<code value="49_XXXXX"/>
<display value="49,XXXXX"/>
<definition value="Pentasomy X"/>
</concept>
<concept>
<code value="47_XYY"/>
<display value="47,XYY"/>
<definition value="XYY-Syndrome"/>
</concept>
<concept>
<code value="48_XXYY"/>
<display value="48,XXYY"/>
<definition value="Y-Polysomy"/>
</concept>
<concept>
<code value="49_XYYYY"/>
<display value="49,XYYYY"/>
<definition value="Y-Polysomy"/>
</concept>
</CodeSystem>