RareLink Implementation Guide
2.0.0 - 2.0.0

RareLink Implementation Guide - Local Development build (v2.0.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Phenotype Severity Value Set - JSON Representation

Draft as of 2025-05-12

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{
  "resourceType" : "ValueSet",
  "id" : "phenotypie-severity-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet phenotypie-severity-vs</b></p><a name=\"phenotypie-severity-vs\"> </a><a name=\"hcphenotypie-severity-vs\"> </a><a name=\"phenotypie-severity-vs-en-US\"> </a><ul><li>Include these codes as defined in <code>http://purl.obolibrary.org/obo/hp.owl</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>HP:0012827</td><td>Borderline</td></tr><tr><td>HP:0012825</td><td>Mild</td></tr><tr><td>HP:0012826</td><td>Moderate</td></tr><tr><td>HP:0012829</td><td>Profound</td></tr><tr><td>HP:0012828</td><td>Severe</td></tr></table></li></ul></div>"
  },
  "url" : "https://rarelink.bih-charite.de/fhir/ValueSet/phenotypie-severity-vs",
  "version" : "2.0.0",
  "name" : "PhenotypeSeverityVS",
  "title" : "Phenotype Severity Value Set",
  "status" : "draft",
  "date" : "2025-05-12T08:03:20+00:00",
  "publisher" : "Berlin Institute of Health - Charité Universitätsmedizin Berlin",
  "contact" : [
    {
      "name" : "Berlin Institute of Health - Charité Universitätsmedizin Berlin",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://github.com/BIH-CEI/RareLink"
        },
        {
          "system" : "email",
          "value" : "adam.graefe@charite.de"
        }
      ]
    }
  ],
  "description" : "Value set for capturing phenotype severity.",
  "compose" : {
    "include" : [
      {
        "system" : "http://purl.obolibrary.org/obo/hp.owl",
        "concept" : [
          {
            "code" : "HP:0012827",
            "display" : "Borderline"
          },
          {
            "code" : "HP:0012825",
            "display" : "Mild"
          },
          {
            "code" : "HP:0012826",
            "display" : "Moderate"
          },
          {
            "code" : "HP:0012829",
            "display" : "Profound"
          },
          {
            "code" : "HP:0012828",
            "display" : "Severe"
          }
        ]
      }
    ]
  }
}