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Source1

{
  "resourceType": "CodeSystem",
  "id": "GeneticGender",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "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"
    }
  ]
}