This page is part of the HL7 Terminology (v4.0.0: 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 
: International System for Human Cytogenomic Nomenclature (ISCN) - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:NamingSystem;
fhir:nodeRole fhir:treeRoot;
fhir:Resource.id [ fhir:value "ISCN"];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h3>Summary</h3><table class=\"grid\"><tr><td>Defining URL</td><td>http://terminology.hl7.org/NamingSystem/ISCN</td></tr><tr><td>Name</td><td>ISCN</td></tr><tr><td>Status</td><td>active</td></tr><tr><td>Definition</td><td><div><p>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.</p>\n<p>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.</p>\n</div></td></tr><tr><td>Publisher</td><td>S. Karger AG</td></tr></table><h3>Identifiers</h3><table class=\"grid\"><tr><td><b>Type</b></td><td><b>Value</b></td><td><b>Preferred</b></td><td><b>Period</b></td><td><b>Comment</b></td></tr><tr><td>OID</td><td>2.16.840.1.113883.6.299</td><td>true</td><td></td><td/></tr><tr><td>URI</td><td>https://iscn.karger.com</td><td>true</td><td>2021-01-27 --> (ongoing)</td><td>Official canonical URL going forward.</td></tr></table></div>"
];
fhir:DomainResource.extension [
fhir:index 0;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/tools/StructureDefinition/extension-title" ];
fhir:Extension.valueString [ fhir:value "International System for Human Cytogenomic Nomenclature (ISCN)" ]
], [
fhir:index 1;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.url" ];
fhir:Extension.valueUri [ fhir:value "http://terminology.hl7.org/NamingSystem/ISCN" ]
], [
fhir:index 2;
fhir:Extension.url [ fhir:value "http://terminology.hl7.org/StructureDefinition/ext-namingsystem-version" ];
fhir:Extension.valueString [ fhir:value "1.0.1" ]
];
fhir:NamingSystem.name [ fhir:value "ISCN"];
fhir:NamingSystem.status [ fhir:value "active"];
fhir:NamingSystem.kind [ fhir:value "codesystem"];
fhir:NamingSystem.date [ fhir:value "2022-06-07T00:00:00-00:00"^^xsd:dateTime];
fhir:NamingSystem.publisher [ fhir:value "S. Karger AG"];
fhir:NamingSystem.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "S. Karger AG; P.O Box, CH-4009 Basel (Switzerland) Allschwilerstrasse 10, CH-4055 Basel" ];
fhir:ContactDetail.telecom [
fhir:index 0;
fhir:ContactPoint.system [ fhir:value "url" ];
fhir:ContactPoint.value [ fhir:value "https://www.karger.com/" ] ], [
fhir:index 1;
fhir:ContactPoint.system [ fhir:value "email" ];
fhir:ContactPoint.value [ fhir:value "info@signaturegenomics.com" ] ], [
fhir:index 2;
fhir:ContactPoint.system [ fhir:value "phone" ];
fhir:ContactPoint.value [ fhir:value "+41 61 306 11 11" ] ]
];
fhir:NamingSystem.description [ fhir: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.\r\n\r\nA 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."];
fhir:NamingSystem.uniqueId [
fhir:index 0;
fhir:NamingSystem.uniqueId.type [ fhir:value "oid" ];
fhir:NamingSystem.uniqueId.value [ fhir:value "2.16.840.1.113883.6.299" ];
fhir:NamingSystem.uniqueId.preferred [ fhir:value "true"^^xsd:boolean ]
], [
fhir:index 1;
fhir:NamingSystem.uniqueId.type [ fhir:value "uri" ];
fhir:NamingSystem.uniqueId.value [ fhir:value "https://iscn.karger.com" ];
fhir:NamingSystem.uniqueId.preferred [ fhir:value "true"^^xsd:boolean ];
fhir:NamingSystem.uniqueId.comment [ fhir:value "Official canonical URL going forward." ];
fhir:NamingSystem.uniqueId.period [
fhir:Period.start [ fhir:value "2021-01-27"^^xsd:date ] ]
].
# - ontology header ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.
