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

: Age of Onset Value Set - JSON Representation

Draft as of 2025-05-12

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{
  "resourceType" : "ValueSet",
  "id" : "age-of-onset-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet age-of-onset-vs</b></p><a name=\"age-of-onset-vs\"> </a><a name=\"hcage-of-onset-vs\"> </a><a name=\"age-of-onset-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:0011460</td><td>Embryonal onset (0w-8w embryonal)</td></tr><tr><td>HP:0011461</td><td>Fetal onset (8w embryonal - birth)</td></tr><tr><td>HP:0003577</td><td>Congenital onset (at birth)</td></tr><tr><td>HP:0003623</td><td>Neonatal onset (0d-28d)</td></tr><tr><td>HP:0003593</td><td>Infantile onset (28d-1y)</td></tr><tr><td>HP:0011463</td><td>Childhood onset (1y-5y)</td></tr><tr><td>HP:0003621</td><td>Juvenile onset (5y-15y)</td></tr><tr><td>HP:0011462</td><td>Young adult onset (16y-40y)</td></tr><tr><td>HP:0003596</td><td>Middle age adult onset (40y-60y)</td></tr><tr><td>HP:0003584</td><td>Late adult onset (60y+)</td></tr></table></li></ul></div>"
  },
  "url" : "https://rarelink.bih-charite.de/fhir/ValueSet/age-of-onset-vs",
  "version" : "2.0.0",
  "name" : "AgeOfOnsetVS",
  "title" : "Age of Onset 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 the age of onset for phenotypes.",
  "compose" : {
    "include" : [
      {
        "system" : "http://purl.obolibrary.org/obo/hp.owl",
        "concept" : [
          {
            "code" : "HP:0011460",
            "display" : "Embryonal onset (0w-8w embryonal)"
          },
          {
            "code" : "HP:0011461",
            "display" : "Fetal onset (8w embryonal - birth)"
          },
          {
            "code" : "HP:0003577",
            "display" : "Congenital onset (at birth)"
          },
          {
            "code" : "HP:0003623",
            "display" : "Neonatal onset (0d-28d)"
          },
          {
            "code" : "HP:0003593",
            "display" : "Infantile onset (28d-1y)"
          },
          {
            "code" : "HP:0011463",
            "display" : "Childhood onset (1y-5y)"
          },
          {
            "code" : "HP:0003621",
            "display" : "Juvenile onset (5y-15y)"
          },
          {
            "code" : "HP:0011462",
            "display" : "Young adult onset (16y-40y)"
          },
          {
            "code" : "HP:0003596",
            "display" : "Middle age adult onset (40y-60y)"
          },
          {
            "code" : "HP:0003584",
            "display" : "Late adult onset (60y+)"
          }
        ]
      }
    ]
  }
}