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Merge pull request #167 from NHSDigital/Issue-2667
Draft ConceptMap for Chromosomal Sex
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‎ConceptMap/ConceptMap-Genomics-chromosomal-sex.json‎

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{
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"resourceType": "ConceptMap",
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"id": "genomics-chromosomal-sex",
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"url": "https://fhir.nhs.uk/ConceptMap/genomics-chromosomal-sex",
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"version": "0.1.0",
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"name": "GenomicsChromosomalSex",
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"title": "Genomics Chromosomal Sex",
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"status": "draft",
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"date": "2025-09-05T10:33:00.000Z",
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"publisher": "NHS England",
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"contact": [
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{
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"name": "NHS England",
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"telecom": [
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{
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"system": "email",
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"value": "interoperabilityteam@nhs.net"
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}
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]
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}
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],
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"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.",
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"purpose": "ConceptMap used for the translation and recording of concepts for fetal maternal screening genotype. This is intended for the element Condition.code. An appropriate SNOMED CT code or free text should be used to record the Genotype.",
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"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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"targetUri": "http://snomed.info/sct",
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"group": [
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{
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"source": "https://future.nhs.uk/NHSgenomics/view?objectId=222250117",
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"target": "http://snomed.info/sct",
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"element": [
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{
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"code": "male",
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"display": "MALE",
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"target": [
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{
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"code": "248153007",
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"display": "Male",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "female",
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"display": "FEMALE",
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"target": [
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{
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"code": "248152002",
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"display": "Female",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "indeterminate",
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"display": "INDETERMINATE",
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"target": [
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{
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"code": "32570681000036106",
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"display": "Indeterminate sex",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "XX",
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"display": "XX",
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"target": [
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{
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"code": "734875008",
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"display": "Karyotype 46, XX",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "XO",
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"display": "XO",
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"target": [
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{
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"code": "710008008",
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"display": "XO syndrome",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "XY",
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"display": "XY",
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"target": [
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{
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"code": "734876009",
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"display": "Karyotype 46, XY",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "XXY",
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"display": "XXY",
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"target": [
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{
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"code": "405769009",
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"display": "XXY syndrome",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "XYY",
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"display": "XYY",
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"target": [
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{
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"code": "50749006",
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"display": "XYY syndrome",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "XXX",
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"display": "XXX",
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"target": [
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{
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"code": "35111009",
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"display": "XXX syndrome",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "XXXX",
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"display": "XXXX",
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"target": [
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{
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"code": "10567003",
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"display": "XXXX syndrome",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "XXXY",
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"display": "XXXY",
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"target": [
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{
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"code": "78317008",
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"display": "XXXY syndrome",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "XXYY",
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"display": "XXYY",
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"target": [
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{
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"code": "403760006",
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"display": "XXYY syndrome",
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"equivalence": "equivalent"
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}
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]
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},
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{
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"code": "unknown",
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"display": "UNKNOWN",
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"target": [
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{
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"code": "184115007",
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"display": "Patient sex unknown",
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"equivalence": "equivalent"
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}
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]
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}
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]
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},
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{
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"source": "https://future.nhs.uk/NHSgenomics/view?objectId=222250117",
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"target": "http://terminology.hl7.org/CodeSystem/sex-parameter-for-clinical-use",
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"element": [
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{
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"code": "other",
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"display": "OTHER",
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"target": [
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{
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"code": "specified",
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"display": "Apply specified setting or reference range",
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"equivalence": "equivalent"
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}
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]
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}
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]
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}
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]
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}

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