GenomeX Data Exchange FHIR IG
0.2.0 - draft
GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions
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<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation PrenatalReprDiagImpFactorXiDeficiencyCouple</b></p><a name="PrenatalReprDiagImpFactorXiDeficiencyCouple"> </a><a name="hcPrenatalReprDiagImpFactorXiDeficiencyCouple"> </a><a name="PrenatalReprDiagImpFactorXiDeficiencyCouple-en-US"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px">version: 1; Last updated: 2024-09-25 00:02:13+0000; </p><p style="margin-bottom: 0px">Information Source: #mzuK1EHcvMPipAda</p><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-diagnostic-implication.html">Diagnostic Implication</a></p></div><p><b>Genomic Risk Assessment</b>: <a href="RiskAssessment-PrenatalReproductivePostRiskFactorXiDeficiencyCouple.html">factor XI deficiency Reproductive Risk</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></p><p><b>subject</b>: <a href="Group-PrenatalGroupPatientFemaleandPatientMale.html">Group: type = person; actual = true</a></p><p><b>effective</b>: 2024-06-26</p><p><b>performer</b>: <a href="Practitioner-PractitionerLabDirector.html">Practitioner PractitionerJane Smith </a></p><p><b>note</b>: ## What is Factor XI Deficiency?\n\nFactor XI deficiency, also called hemophilia C, is an inherited disorder that can cause excessive bleeding. In many cases, the condition is relatively mild, and some individuals may have very few symptoms. The condition is caused by harmful genetic changes (variants) in the _F11_ gene. Individuals with the condition do not have enough factor XI protein. This protein helps platelets in the blood to clot, promoting blood vessel healing following injury. In individuals with factor XI deficiency, levels of factor XI are typically lower than normal. While bleeding problems tend to occur when factor XI levels are lower than 15% of the normal level, bleeding problems can occur when levels are as high as 70%. The severity of bleeding varies widely in individuals, even among members of the same family. \n\nIn individuals with factor IX deficiency, bleeding tends to be more severe after surgery, injury, or childbirth. Bleeding can be a problem after dental, tonsil, or urinary tract surgery. Individuals with factor XI deficiency may also be prone to bruising, nosebleeds, or having blood in their urine. Rarely, biological males with the disease will bleed heavily following circumcision. More than half of individuals with factor XI deficiency who menstruate have abnormally heavy and prolonged periods (menorrhagia). \n\nIt is uncommon for individuals with factor XI deficiency to bleed spontaneously for no obvious reason. However, there may be a delay in the onset of bleeding after an injury or surgery.\n\n\n### Additional considerations for carriers\n\nCarriers of factor XI deficiency are at elevated risk for bleeding problems. Studies have suggested that 20 to 50% of carriers of the disease show "excessive bleeding," although the definition of this phrase varies. Rarely, carriers have shown major bleeding problems.\n\n## How common is Factor XI Deficiency?\n\nThe incidence of factor XI deficiency in the general population is about 1 in 1,000,000. The disease is more common among families in northwest England, where 1 in 10,000 individuals have the disease. Is it also more common in Ashkenazi Jewish individuals, with an incidence of 1 in 450. \n\n## How is Factor XI Deficiency treated?\n\nThere is no cure for factor XI deficiency. The condition can be challenging to treat because bleeding can be unpredictable. In the United States, individuals may be treated with infusions of fresh frozen blood plasma. This blood plasma contains normal quantities of factor XI, thus temporarily enhancing the body\'s ability to clot. However, significant amounts of plasma may be required to achieve the desired clotting effect due to the low concentration of factor XI in plasma.\n\nIn Europe, several commercially available concentrated doses of factor XI can help improve clotting. In some cases, recombinant FVIIa protein is also used to improve clotting. In the case of bleeding in the mouth, nose, intestines, or uterus, several medications may be helpful, though they are not effective for major internal bleeding and can cause clotting throughout the body. Individuals who experience heavy menstrual bleeding may use hormonal birth control pills to help control the bleeding. \n\n## What is the prognosis for an individual with Factor XI Deficiency?\n\nFactor XI deficiency is not known to affect lifespan. In individuals who do not realize they have the disease, life-threatening bleeding is possible following surgery or injury., Factor XI deficiency is usually mild but can cause excessive bleeding after surgery, injury, or childbirth. People with factor XI deficiency may also be prone to bruising, nosebleeds, or blood in their urine. Treatment, when necessary, may involve blood transfusions or other medications. Factor XI deficiency is not known to affect a person\'s lifespan.</p><p><b>derivedFrom</b>: </p><ul><li><a href="Observation-PrenatalVariantFactorXiDeficiencyPatientFemale.html">Observation Genetic variant assessment</a></li><li><a href="Observation-PrenatalVariant1CNVFactorXiDeficiencyPatientMale.html">Observation Genetic variant assessment</a></li></ul><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81259-4}">Associated phenotype</span></p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 49762007}">Thromboplastin antecedent deficiency</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs condition-inheritance}">Condition Inheritance</span></p><p><b>value</b>: <span title="Codes:">Autosomal recessive inheritance</span></p></blockquote></div>
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value="## What is Factor XI Deficiency?\n\nFactor XI deficiency, also called hemophilia C, is an inherited disorder that can cause excessive bleeding. In many cases, the condition is relatively mild, and some individuals may have very few symptoms. The condition is caused by harmful genetic changes (variants) in the _F11_ gene. Individuals with the condition do not have enough factor XI protein. This protein helps platelets in the blood to clot, promoting blood vessel healing following injury. In individuals with factor XI deficiency, levels of factor XI are typically lower than normal. While bleeding problems tend to occur when factor XI levels are lower than 15% of the normal level, bleeding problems can occur when levels are as high as 70%. The severity of bleeding varies widely in individuals, even among members of the same family. \n\nIn individuals with factor IX deficiency, bleeding tends to be more severe after surgery, injury, or childbirth. Bleeding can be a problem after dental, tonsil, or urinary tract surgery. Individuals with factor XI deficiency may also be prone to bruising, nosebleeds, or having blood in their urine. Rarely, biological males with the disease will bleed heavily following circumcision. More than half of individuals with factor XI deficiency who menstruate have abnormally heavy and prolonged periods (menorrhagia). \n\nIt is uncommon for individuals with factor XI deficiency to bleed spontaneously for no obvious reason. However, there may be a delay in the onset of bleeding after an injury or surgery.\n\n\n### Additional considerations for carriers\n\nCarriers of factor XI deficiency are at elevated risk for bleeding problems. Studies have suggested that 20 to 50% of carriers of the disease show "excessive bleeding," although the definition of this phrase varies. Rarely, carriers have shown major bleeding problems.\n\n## How common is Factor XI Deficiency?\n\nThe incidence of factor XI deficiency in the general population is about 1 in 1,000,000. The disease is more common among families in northwest England, where 1 in 10,000 individuals have the disease. Is it also more common in Ashkenazi Jewish individuals, with an incidence of 1 in 450. \n\n## How is Factor XI Deficiency treated?\n\nThere is no cure for factor XI deficiency. The condition can be challenging to treat because bleeding can be unpredictable. In the United States, individuals may be treated with infusions of fresh frozen blood plasma. This blood plasma contains normal quantities of factor XI, thus temporarily enhancing the body\'s ability to clot. However, significant amounts of plasma may be required to achieve the desired clotting effect due to the low concentration of factor XI in plasma.\n\nIn Europe, several commercially available concentrated doses of factor XI can help improve clotting. In some cases, recombinant FVIIa protein is also used to improve clotting. In the case of bleeding in the mouth, nose, intestines, or uterus, several medications may be helpful, though they are not effective for major internal bleeding and can cause clotting throughout the body. Individuals who experience heavy menstrual bleeding may use hormonal birth control pills to help control the bleeding. \n\n## What is the prognosis for an individual with Factor XI Deficiency?\n\nFactor XI deficiency is not known to affect lifespan. In individuals who do not realize they have the disease, life-threatening bleeding is possible following surgery or injury."/>
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