HL7 Terminology (THO)
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This page is part of the HL7 Terminology (v5.1.0: Release) based on FHIR R4. The current version which supercedes this version is 5.2.0. For a full list of available versions, see the Directory of published versions

CodeSystem: International System for Human Cytogenomic Nomenclature (ISCN)

Official URL: https://iscn.karger.com Version: 1.0.1
Active as of 2022-06-07 Responsible: S. Karger AG Computable Name: ISCN
Other Identifiers: id: urn:oid:2.16.840.1.113883.6.299

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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 “chromosome analysis results in ISCN expression”. 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.

This Code system is referenced in the content logical definition of the following value sets:

This CodeSystem is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

This code system https://iscn.karger.com defines many codes, but they are not represented here


2022-08-30reviseTSMGJessica BotaResolve 6 Broken Links due to Telecom Issues; up-329
2022-07-22reviseTSMGJessica BotaAdd default value of TRUE for code systems missing caseSensitive element unless otherwise specified; UP-322
2022-02-10createHTAJessica BotaAdd International System for Human Cytogenomic Nomenclature (ISCN) per HTA; UP-284