HL7 Terminology (THO)
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This page is part of the HL7 Terminology (v6.0.0: Release) based on FHIR (HL7® FHIR® Standard) v5.0.0. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: International System for Human Cytogenomic Nomenclature (ISCN) - XML Representation

Active as of 2022-06-07

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="ISCN"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: CodeSystem ISCN</b></p><a name="ISCN"> </a><a name="hcISCN"> </a><a name="ISCN-en-US"> </a><p>This case-sensitive code system <code>https://iscn.karger.com</code> defines codes, but no codes are represented here</p></div>
  </text>
  <url value="https://iscn.karger.com"/>
  <identifier>
    <system value="urn:ietf:rfc:3986"/>
    <value value="urn:oid:2.16.840.1.113883.6.299"/>
  </identifier>
  <version value="1.0.1"/>
  <name value="ISCN"/>
  <title
         value="International System for Human Cytogenomic Nomenclature (ISCN)"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2022-06-07T00:00:00-00:00"/>
  <publisher value="S. Karger AG"/>
  <contact>
    <name
          value="S. Karger AG; P.O Box, CH-4009 Basel (Switzerland) Allschwilerstrasse 10, CH-4055 Basel"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.karger.com/"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="info@signaturegenomics.com"/>
    </telecom>
    <telecom>
      <system value="phone"/>
      <value value="+41 61 306 11 11"/>
    </telecom>
  </contact>
  <description
               value="The International System for Human Cytogenetic Nomenclature (ISCN) was created by the International Standing committee on Human Cytogenetic Nomenclature to represent the outcome of cytogenetic tests. ISCN specifies the nomenclature to describe karyotypes, chromosome abnormalities, in situ hybridization, etc. ISCN provides a list of symbols and abbreviated terms in adjunction with a set of rules, which can be used in the description of chromosomes and chromosome abnormalities, such as p for short arm of chromosome, q for long arm of chromosome, cen for centromere, del for deletion, ish for in situ hybridization, and plus sign (+) for gain, etc.

A LOINC code is created to represent &quot;chromosome analysis results in ISCN expression&quot;. In HL7 v2 messages, this LOINC code is used in OBX-3 with a coded result (CWE data type) that will be sent in OBX-5. The value of the coded result is an ISCN expression, and ISCN will be the code system for the coded result."/>
  <copyright
             value="The content on the Website including but not limited to the content of ISCN 2020 in whole or in parts, the title, the logo, graphic designs or adverts are the intellectual property of S. Karger AG (Basel) or published with permission from the legal copyright owner. All rights are reserved. Unless otherwise noted, no part of the content on the Website may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from Karger.

For further information or permission requests please see the explanations under Rights and Permissions (https://www.karger.com/Services/RightsPermissions)."/>
  <caseSensitive value="true"/>
  <content value="not-present"/>
</CodeSystem>