Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
ConceptMap Genomic Observation Chromosomal Sex
| Usage |
|---|
ConceptMap used for the translation and recording of chromosomal sex. This is intended for the element Observation.code. An appropriate SNOMED CT code or free text should be used to record the sex of other is selected. |
HTML View
to SNOMED_CT
| Source | Equivalence | Target |
|---|---|---|
| male (MALE) | equivalent | 248153007 (Male) |
| female (FEMALE) | equivalent | 248152002 (Female) |
| indeterminate (INDETERMINATE) | equivalent | 32570681000036106 (Indeterminate sex) |
| XX (XX) | equivalent | 734875008 (Karyotype 46, XX) |
| XO (XO) | equivalent | 710008008 (XO syndrome) |
| XY (XY) | equivalent | 734876009 (Karyotype 46, XY) |
| XXY (XXY) | equivalent | 405769009 (XXY syndrome) |
| XYY (XYY) | equivalent | 50749006 (XYY syndrome) |
| XXX (XXX) | equivalent | 35111009 (XXX syndrome) |
| XXXX (XXXX) | equivalent | 10567003 (XXXX syndrome) |
| XXXY (XXXY) | equivalent | 78317008 (XXXY syndrome) |
| XXYY (XXYY) | equivalent | 403760006 (XXYY syndrome) |
| unknown (UNKNOWN) | equivalent | 184115007 (Patient sex unknown) |
| Source | Equivalence | Target |
|---|---|---|
| other (OTHER) | equivalent | specified (Apply specified setting or reference range) |
Table View
| ConceptMap.id[0] | genomics-chromosomal-sex |
| ConceptMap.url[0] | https://fhir.nhs.uk/ConceptMap/genomics-chromosomal-sex |
| ConceptMap.version[0] | 0.1.0 |
| ConceptMap.name[0] | GenomicsChromosomalSex |
| ConceptMap.title[0] | Genomics Chromosomal Sex |
| ConceptMap.status[0] | draft |
| ConceptMap.date[0] | 2025-09-05T10:33:00.000Z |
| ConceptMap.publisher[0] | NHS England |
| ConceptMap.contact[0].name[0] | NHS England |
| ConceptMap.contact[0].telecom[0].system[0] | |
| ConceptMap.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ConceptMap.description[0] | A ConceptMap used for the translation and recording of concepts from MDS source data(code-options) to equivalent Snomed CT codes, and FHIR spec. |
| ConceptMap.purpose[0] | ConceptMap used for the translation and recording of chromosomal sex. This is intended for the element Observation.code. An appropriate SNOMED CT code or free text should be used to record the sex of other is selected. |
| ConceptMap.copyright[0] | Copyright © 2025+ NHS England Licensed under the Apache License, Version 2.0 (the \"License\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \"AS IS\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html. |
| ConceptMap.target[0] | http://snomed.info/sct |
| ConceptMap.group[0].source[0] | https://future.nhs.uk/NHSgenomics/view?objectId=222250117 |
| ConceptMap.group[0].target[0] | http://snomed.info/sct |
| ConceptMap.group[0].element[0].code[0] | male |
| ConceptMap.group[0].element[0].display[0] | MALE |
| ConceptMap.group[0].element[0].target[0].code[0] | 248153007 |
| ConceptMap.group[0].element[0].target[0].display[0] | Male |
| ConceptMap.group[0].element[0].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[1].code[0] | female |
| ConceptMap.group[0].element[1].display[0] | FEMALE |
| ConceptMap.group[0].element[1].target[0].code[0] | 248152002 |
| ConceptMap.group[0].element[1].target[0].display[0] | Female |
| ConceptMap.group[0].element[1].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[2].code[0] | indeterminate |
| ConceptMap.group[0].element[2].display[0] | INDETERMINATE |
| ConceptMap.group[0].element[2].target[0].code[0] | 32570681000036106 |
| ConceptMap.group[0].element[2].target[0].display[0] | Indeterminate sex |
| ConceptMap.group[0].element[2].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[3].code[0] | XX |
| ConceptMap.group[0].element[3].display[0] | XX |
| ConceptMap.group[0].element[3].target[0].code[0] | 734875008 |
| ConceptMap.group[0].element[3].target[0].display[0] | Karyotype 46, XX |
| ConceptMap.group[0].element[3].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[4].code[0] | XO |
| ConceptMap.group[0].element[4].display[0] | XO |
| ConceptMap.group[0].element[4].target[0].code[0] | 710008008 |
| ConceptMap.group[0].element[4].target[0].display[0] | XO syndrome |
| ConceptMap.group[0].element[4].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[5].code[0] | XY |
| ConceptMap.group[0].element[5].display[0] | XY |
| ConceptMap.group[0].element[5].target[0].code[0] | 734876009 |
| ConceptMap.group[0].element[5].target[0].display[0] | Karyotype 46, XY |
| ConceptMap.group[0].element[5].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[6].code[0] | XXY |
| ConceptMap.group[0].element[6].display[0] | XXY |
| ConceptMap.group[0].element[6].target[0].code[0] | 405769009 |
| ConceptMap.group[0].element[6].target[0].display[0] | XXY syndrome |
| ConceptMap.group[0].element[6].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[7].code[0] | XYY |
| ConceptMap.group[0].element[7].display[0] | XYY |
| ConceptMap.group[0].element[7].target[0].code[0] | 50749006 |
| ConceptMap.group[0].element[7].target[0].display[0] | XYY syndrome |
| ConceptMap.group[0].element[7].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[8].code[0] | XXX |
| ConceptMap.group[0].element[8].display[0] | XXX |
| ConceptMap.group[0].element[8].target[0].code[0] | 35111009 |
| ConceptMap.group[0].element[8].target[0].display[0] | XXX syndrome |
| ConceptMap.group[0].element[8].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[9].code[0] | XXXX |
| ConceptMap.group[0].element[9].display[0] | XXXX |
| ConceptMap.group[0].element[9].target[0].code[0] | 10567003 |
| ConceptMap.group[0].element[9].target[0].display[0] | XXXX syndrome |
| ConceptMap.group[0].element[9].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[10].code[0] | XXXY |
| ConceptMap.group[0].element[10].display[0] | XXXY |
| ConceptMap.group[0].element[10].target[0].code[0] | 78317008 |
| ConceptMap.group[0].element[10].target[0].display[0] | XXXY syndrome |
| ConceptMap.group[0].element[10].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[11].code[0] | XXYY |
| ConceptMap.group[0].element[11].display[0] | XXYY |
| ConceptMap.group[0].element[11].target[0].code[0] | 403760006 |
| ConceptMap.group[0].element[11].target[0].display[0] | XXYY syndrome |
| ConceptMap.group[0].element[11].target[0].equivalence[0] | equivalent |
| ConceptMap.group[0].element[12].code[0] | unknown |
| ConceptMap.group[0].element[12].display[0] | UNKNOWN |
| ConceptMap.group[0].element[12].target[0].code[0] | 184115007 |
| ConceptMap.group[0].element[12].target[0].display[0] | Patient sex unknown |
| ConceptMap.group[0].element[12].target[0].equivalence[0] | equivalent |
| ConceptMap.group[1].source[0] | https://future.nhs.uk/NHSgenomics/view?objectId=222250117 |
| ConceptMap.group[1].target[0] | http://terminology.hl7.org/CodeSystem/sex-parameter-for-clinical-use |
| ConceptMap.group[1].element[0].code[0] | other |
| ConceptMap.group[1].element[0].display[0] | OTHER |
| ConceptMap.group[1].element[0].target[0].code[0] | specified |
| ConceptMap.group[1].element[0].target[0].display[0] | Apply specified setting or reference range |
| ConceptMap.group[1].element[0].target[0].equivalence[0] | equivalent |
XML View
</telecom>
</contact>
<description value="A ConceptMap used for the translation and recording of concepts from MDS source data(code-options) to equivalent Snomed CT codes, and FHIR spec." />
<purpose value="ConceptMap used for the translation and recording of chromosomal sex. This is intended for the element Observation.code. An appropriate SNOMED CT code or free text should be used to record the sex of other is selected." />
<copyright value="Copyright © 2025+ NHS England Licensed under the Apache License, Version 2.0 (the \"License\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \"AS IS\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html." />
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</target>
</element>
</group>
</target>
</element>
</group>
</ConceptMap>
JSON View
{
{
]
}
],
"description": "A ConceptMap used for the translation and recording of concepts from MDS source data(code-options) to equivalent Snomed CT codes, and FHIR spec.",
"purpose": "ConceptMap used for the translation and recording of chromosomal sex. This is intended for the element Observation.code. An appropriate SNOMED CT code or free text should be used to record the sex of other is selected.",
"copyright": "Copyright © 2025+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.",
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