This page is part of the Mobile Antepartum Summary (v1.0.0-comment: Publication Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. 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
: Antepartum Family History and Genetic Screening - 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:ValueSet ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "Antepartum.Family.History.and.Genetic.Screening.VS"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><ul><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://snomed.info/id/408856003\">408856003</a></td><td>Autism</td></tr><tr><td><a href=\"http://snomed.info/id/414022008\">414022008</a></td><td>Blood Disorders</td></tr><tr><td><a href=\"http://snomed.info/id/80544005\">80544005</a></td><td>Canavan Disease</td></tr><tr><td><a href=\"http://snomed.info/id/409709004\">409709004</a></td><td>Chromosomal Disorder Includes any inherited genetic or chromosomal disorders</td></tr><tr><td><a href=\"http://snomed.info/id/13213009\">13213009</a></td><td>Congenital Heart Defect</td></tr><tr><td><a href=\"http://snomed.info/id/190905008\">190905008</a></td><td>Cystic Fibrosis</td></tr><tr><td><a href=\"http://snomed.info/id/276720006\">276720006</a></td><td>Dysmorphism (Birth Defect) Patient or baby's father has a child with birth defects</td></tr><tr><td><a href=\"http://snomed.info/id/41040004\">41040004</a></td><td>Down Syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/29159009\">29159009</a></td><td>Familial Dysautonomia</td></tr><tr><td><a href=\"http://snomed.info/id/90935002\">90935002</a></td><td>Hemophilia</td></tr><tr><td><a href=\"http://snomed.info/id/58756001\">58756001</a></td><td>Huntington's Chorea</td></tr><tr><td><a href=\"http://snomed.info/id/75934005\">75934005</a></td><td>Maternal Metabolic Disorder</td></tr><tr><td><a href=\"http://snomed.info/id/91138005\">91138005</a></td><td>Mental Retardation</td></tr><tr><td><a href=\"http://snomed.info/id/73297009\">73297009</a></td><td>Muscular Dystrophy</td></tr><tr><td><a href=\"http://snomed.info/id/253098009\">253098009</a></td><td>Neural Tube Defect</td></tr><tr><td><a href=\"http://snomed.info/id/102878001\">102878001</a></td><td>Recurrent pregnancy loss/stillbirth</td></tr><tr><td><a href=\"http://snomed.info/id/417357006\">417357006</a></td><td>Sickle Cell Disease</td></tr><tr><td><a href=\"http://snomed.info/id/16402000\">16402000</a></td><td>Sickle Cell Trait</td></tr><tr><td><a href=\"http://snomed.info/id/111385000\">111385000</a></td><td>Tay-Sachs</td></tr><tr><td><a href=\"http://snomed.info/id/40108008\">40108008</a></td><td>Thalassemia</td></tr></table></li></ul></div>"
] ; #
fhir:url [ fhir:v "https://profiles.ihe.net/PCC/mAPS/ValueSet/Antepartum.Family.History.and.Genetic.Screening.VS"^^xsd:anyURI] ; #
fhir:version [ fhir:v "1.0.0-comment"] ; #
fhir:name [ fhir:v "Antepartum_Family_History_and_Genetic_Screening_VS"] ; #
fhir:title [ fhir:v "Antepartum Family History and Genetic Screening"] ; #
fhir:status [ fhir:v "active"] ; #
fhir:experimental [ fhir:v "false"^^xsd:boolean] ; #
fhir:date [ fhir:v "2024-06-04T15:28:59-05:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "IHE Patient Care Coordination Committee"] ; #
fhir:contact ( [
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.ihe.net/ihe_domains/patient_care_coordination/" ] ] )
] [
( fhir:telecom [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "pcc@ihe.net" ] ] )
] [
fhir:name [ fhir:v "IHE Patient Care Coordination Committee" ] ;
( fhir:telecom [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "pcc@ihe.net" ] ] )
] ) ; #
fhir:description [ fhir:v "This value set includes the type of genetic-related risks identified through screening of the patient’s and biological father’s family history."] ; #
fhir:jurisdiction ( [
( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "001" ] ] )
] ) ; #
fhir:compose [
( fhir:include [
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "408856003" ] ;
fhir:display [ fhir:v "Autism" ] ] [
fhir:code [ fhir:v "414022008" ] ;
fhir:display [ fhir:v "Blood Disorders" ] ] [
fhir:code [ fhir:v "80544005" ] ;
fhir:display [ fhir:v "Canavan Disease" ] ] [
fhir:code [ fhir:v "409709004" ] ;
fhir:display [ fhir:v "Chromosomal Disorder Includes any inherited genetic or chromosomal disorders" ] ] [
fhir:code [ fhir:v "13213009" ] ;
fhir:display [ fhir:v "Congenital Heart Defect" ] ] [
fhir:code [ fhir:v "190905008" ] ;
fhir:display [ fhir:v "Cystic Fibrosis" ] ] [
fhir:code [ fhir:v "276720006" ] ;
fhir:display [ fhir:v "Dysmorphism (Birth Defect) Patient or baby's father has a child with birth defects" ] ] [
fhir:code [ fhir:v "41040004" ] ;
fhir:display [ fhir:v "Down Syndrome" ] ] [
fhir:code [ fhir:v "29159009" ] ;
fhir:display [ fhir:v "Familial Dysautonomia" ] ] [
fhir:code [ fhir:v "90935002" ] ;
fhir:display [ fhir:v "Hemophilia" ] ] [
fhir:code [ fhir:v "58756001" ] ;
fhir:display [ fhir:v "Huntington's Chorea" ] ] [
fhir:code [ fhir:v "75934005" ] ;
fhir:display [ fhir:v "Maternal Metabolic Disorder" ] ] [
fhir:code [ fhir:v "91138005" ] ;
fhir:display [ fhir:v "Mental Retardation" ] ] [
fhir:code [ fhir:v "73297009" ] ;
fhir:display [ fhir:v "Muscular Dystrophy" ] ] [
fhir:code [ fhir:v "253098009" ] ;
fhir:display [ fhir:v "Neural Tube Defect" ] ] [
fhir:code [ fhir:v "102878001" ] ;
fhir:display [ fhir:v "Recurrent pregnancy loss/stillbirth" ] ] [
fhir:code [ fhir:v "417357006" ] ;
fhir:display [ fhir:v "Sickle Cell Disease" ] ] [
fhir:code [ fhir:v "16402000" ] ;
fhir:display [ fhir:v "Sickle Cell Trait" ] ] [
fhir:code [ fhir:v "111385000" ] ;
fhir:display [ fhir:v "Tay-Sachs" ] ] [
fhir:code [ fhir:v "40108008" ] ;
fhir:display [ fhir:v "Thalassemia" ] ] ) ] )
] . #
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