OpenEHR Master CKM Mirror
Name
Family prevalence
Description
Summary information about the prevalence of a risk factor, problem or diagnosis in all family members.
Keywords
family history
prevalence
affected
genetic
Purpose
To record information about the prevalence of an identified risk factor, problem or diagnosis in genetic and non-genetic family members.
Use
Use to record information about the prevalence of an identified risk factor, problem or diagnosis in genetic and non-genetic family members.
This archetype has specifically been designed to be used in the 'Detail' SLOT within the EVALUATION.health_risk archetype to support assessment of risk in the subject of care for the identified 'Risk factor' and the 'Family prevalence' SLOT in the EVALUATION.family_history archetype. It can also be used in the 'Specific details' SLOT within the EVALUATION.problem_diagnosis archetype or other EVALUATION or CLUSTER archetypes, where clinically appropriate.
This archetype has specifically been designed to be used in the 'Detail' SLOT within the EVALUATION.health_risk archetype to support assessment of risk in the subject of care for the identified 'Risk factor' and the 'Family prevalence' SLOT in the EVALUATION.family_history archetype. It can also be used in the 'Specific details' SLOT within the EVALUATION.problem_diagnosis archetype or other EVALUATION or CLUSTER archetypes, where clinically appropriate.
Misuse
Not to be used to record actual health information about problems or diagnoses in individual family members - use EVALUATION.family_history for this purpose.
References
Risk of condition based on family history, rejected archetype, openEHR Clinical Knowledge Manager [Internet]. openEHR Foundation. Authored: 2006 04 23. Available at: http://www.openehr.org/ckm/#showArchetype_1013.1.125 (last accessed 2015 03 05).
Archetype Id
openEHR-EHR-CLUSTER.family_prevalence.v1
Copyright
© openEHR Foundation
Licencing
This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/.
Original Author
Heather Leslie
Atomica Informatics
Atomica Informatics
Date Originally Authored
2015-05-05
Language | Details |
---|---|
German |
Sarah Ballout, Andreas Kling
Heidelberg University Hospital
|
Swedish |
Therese Lindberg
Cambio CDS
|
Portuguese (Brazil) |
Osmeire Chamelette Sanzovo
Hospital Sírio Libanês - SP
|
Name | Card | Type | Description |
---|---|---|---|
Description
|
0..1 | DV_TEXT |
Narrative description about occurrence in family members.
|
Genetic predisposition?
|
0..1 | DV_BOOLEAN |
Is there a genetic basis for the identified risk factor, problem or diagnosis?
Comment
Optional to record as True if there is a recognised genetic predisposition. In many cases, this may be inferred from the risk factor, problem or diagnosis and not need to be recorded explicitly.
Constraint for DV_BOOLEAN
Alowed Values: true
|
Inheritance type
|
0..1 | DV_TEXT |
Category of inheritance for the identified risk factor, problem or diagnosis.
Comment
For example: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, codominant, or mitochondrial.
|
|
0..* | CLUSTER |
Details about the numbers of family members affected.
Comment
This cluster will be repeated for each relationship, family line, sex value or combination of all three. For example, the cluster will be repeated for any or all of first degree relative (without sex specified), first degree relative from maternal line; first degree male relative or first degree female relative; or all males, all females.
CLUSTER
|
Relationship
|
0..1 | DV_CODED_TEXT |
The degree of relationship between the subject of care and a selected group of family members.
Constraint for DV_CODED_TEXT
|
Family line
|
0..1 | DV_CODED_TEXT |
Identification of the maternal or paternal family line in the relationship.
Comment
Only for use with genetic family members.
Constraint for DV_CODED_TEXT
|
Biological sex
|
0..1 | DV_CODED_TEXT |
The biological sex of the family member/s.
Constraint for DV_CODED_TEXT
|
Number affected
|
0..1 | DV_COUNT |
The number of family members known to be affected.
Comment
This is the number of family members who are affected AND who also fit selected relationship, family line and sex criteria. Effectively this number is the numerator for calculation of an 'Affected ratio'.
Constraint for DV_COUNT
min: >= 0
|
Number eligible
|
0..1 | DV_COUNT |
The number of eligible family members.
Comment
This is the number of family members who potentially could be affected AND who also fit selected relationship, family line and sex criteria. Effectively this number is the denominator for calculation of an 'Affected ratio'.
Constraint for DV_COUNT
min: >= 0
|
archetype (adl_version=1.4; uid=28365b69-c6b7-4320-9329-c890dabd8b63) openEHR-EHR-CLUSTER.family_prevalence.v1 concept [at0000] -- Family prevalence language original_language = <[ISO_639-1::en]> translations = < ["de"] = < language = <[ISO_639-1::de]> author = < ["name"] = <"Sarah Ballout, Andreas Kling"> ["organisation"] = <"Heidelberg University Hospital"> ["email"] = <"ballout.sarah@mh-hannover.de, andreas.kling@bioquant.uni-heidelberg.de"> > > ["sv"] = < language = <[ISO_639-1::sv]> author = < ["name"] = <"Therese Lindberg"> ["organisation"] = <"Cambio CDS"> ["email"] = <"therese.lindberg@cambio.se"> > > ["pt-br"] = < language = <[ISO_639-1::pt-br]> author = < ["name"] = <"Osmeire Chamelette Sanzovo"> ["organisation"] = <"Hospital Sírio Libanês - SP"> ["email"] = <"osmeire.acsanzovo@hsl.org.br"> > > > description original_author = < ["name"] = <"Heather Leslie"> ["organisation"] = <"Atomica Informatics"> ["email"] = <"heather.leslie@atomicainformatics.com"> ["date"] = <"2015-05-05"> > details = < ["de"] = < language = <[ISO_639-1::de]> purpose = <"Zur Repräsentation von Informationen über die Prävalenz eines bestimmten Risikofaktors, eines Problems oder einer Diagnose bei genetischen und nicht-genetischen Familienmitgliedern."> use = <"Zur Repräsentation von Informationen über die Prävalenz eines bestimmten Risikofaktors, eines Problems oder einer Diagnose bei genetischen und nicht-genetischen Familienmitgliedern. Dieser Archetyp wurde speziell für die Verwendung im 'Detail' SLOT innerhalb des Archetyps EVALUATION.health_risk entwickelt, um die Risikobewertung im Bereich der Pflege für den ermittelten Risikofaktors und der \"Familienprävalenz\" Slot im Archetyp EVALUATION.family_history zu unterstützen. Es kann auch in der SLOT \"Spezifische Details\" innerhalb des Archetyps EVALUATION.problem_diagnosis ,oder anderer EVALUATION- oder CLUSTER-Archetypen verwendet werden, falls dies klinisch angemessen ist. "> keywords = <"Familienanamnese", "Prävalenz", "betroffen", "genetisch"> misuse = <"Nicht zur Repräsentation von aktuellen Gesundheitsinformationen über Problemen oder Diagnosen einzelner Familienmitglieder verwenden - verwenden Sie dazu EVALUATION.family_history."> > ["sv"] = < language = <[ISO_639-1::sv]> purpose = <"Att registrera information om förekomsten av en identifierad riskfaktor, problem eller diagnos hos genetiska och icke-genetiska familjemedlemmar."> use = <"Används för att registrera information om förekomsten av en identifierad riskfaktor, problem eller diagnos hos genetiska och icke-genetiska familjemedlemmar. Denna arketyp har specifikt utformats för att användas i 'Detail' SLOT inom EVALUATION.health_risk archetype för att stödja bedömning av vårdrisk för den identifierade 'Risk factor' och 'Family prevalence' SLOT i EVALUATION.family_history arketyp. Den kan också användas i SLOT 'Specific details' inom EVALUATION.problem_diagnosis-arketyp eller andra EVALUATION- eller CLUSTER-arketyper, där det är kliniskt lämpligt."> keywords = <"familjehistoria", "utbredning", "påverkade", "genetisk"> misuse = <"Inte utformad för att registrera faktisk hälsoinformation om problem eller diagnoser hos enskilda familjemedlemmar - använd EVALUATION.family_history för detta ändamål."> > ["pt-br"] = < language = <[ISO_639-1::pt-br]> purpose = <"Para registrar informações sobre a prevalência de um fator de risco identificado, problema ou diagnóstico não-genético ou genético em membros da família."> use = <"Use para registrar informações sobre a prevalência de um fator de risco identificado, problema ou diagnóstico não-genético ou genético em membros da família . Este arquétipo foi projetado especificamente para ser usado no SLOT detalhe dentro do arquétipo de EVALUATION.healthrisk para apoiar a avaliação de risco em objeto de cuidados para o fator de risco identificado e a família prevalência SLOT no arquétipo de EVALUATION.familyhistory. Também pode ser usada em detalhes específicos SLOT dentro do arquétipo de EVALUATION.problemdiagnosis, ou outros arquétipos de avaliação ou de CLUSTER, quando clinicamente apropriado."> keywords = <"história familiar", "prevalência", "afetado", "genético"> misuse = <"Não deve ser utilizado para registrar informações sobre problemas ou diagnósticos individuais de membros da família - use EVALUATION.family_history para essa finalidade."> > ["en"] = < language = <[ISO_639-1::en]> purpose = <"To record information about the prevalence of an identified risk factor, problem or diagnosis in genetic and non-genetic family members."> use = <"Use to record information about the prevalence of an identified risk factor, problem or diagnosis in genetic and non-genetic family members. This archetype has specifically been designed to be used in the 'Detail' SLOT within the EVALUATION.health_risk archetype to support assessment of risk in the subject of care for the identified 'Risk factor' and the 'Family prevalence' SLOT in the EVALUATION.family_history archetype. It can also be used in the 'Specific details' SLOT within the EVALUATION.problem_diagnosis archetype or other EVALUATION or CLUSTER archetypes, where clinically appropriate."> keywords = <"family history", "prevalence", "affected", "genetic"> misuse = <"Not to be used to record actual health information about problems or diagnoses in individual family members - use EVALUATION.family_history for this purpose."> copyright = <"© openEHR Foundation"> > > lifecycle_state = <"published"> other_contributors = <"Vebjoern Arntzen, Oslo university hospital, Norway", "Koray Atalag, University of Auckland, New Zealand", "Silje Ljosland Bakke, National ICT Norway, Norway (openEHR Editor)", "Lars Bitsch-Larsen, Haukeland University hospital, Norway", "Shahla Foozonkhah, Ocean Informatics, Australia", "Einar Fosse, National Centre for Integrated Care and Telemedicine, Norway", "Heather Grain, Llewelyn Grain Informatics, Australia", "Sam Heard, Ocean Informatics, Australia", "Lars Karlsen, DIPS ASA, Norway", "Shinji Kobayashi, Kyoto University, Japan", "Heather Leslie, Atomica Informatics, Australia (openEHR Editor)", "Hugh Leslie, Ocean Informatics, Australia", "Hallvard Lærum, Oslo University Hospital, Norway", "Ian McNicoll, freshEHR Clinical Informatics, United Kingdom (openEHR Editor)", "Andrej Orel, Marand d.o.o., Slovenia", "Jussara Rotzsch, UNB, Brazil"> other_details = < ["licence"] = <"This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/."> ["custodian_organisation"] = <"openEHR Foundation"> ["references"] = <"Risk of condition based on family history, rejected archetype, openEHR Clinical Knowledge Manager [Internet]. openEHR Foundation. Authored: 2006 04 23. Available at: http://www.openehr.org/ckm/#showArchetype_1013.1.125 (last accessed 2015 03 05)."> ["current_contact"] = <"Heather Leslie, Atomica Informatics<heather.leslie@atomicainformatics.com>"> ["original_namespace"] = <"org.openehr"> ["original_publisher"] = <"openEHR Foundation"> ["custodian_namespace"] = <"org.openehr"> ["MD5-CAM-1.0.1"] = <"1181A97E743666FB5597DAB5DB21ACC5"> ["build_uid"] = <"41a82c4f-c40e-4608-b78b-96014ec5a653"> ["revision"] = <"1.0.7"> > definition CLUSTER[at0000] matches { -- Family prevalence items cardinality matches {1..*; unordered} matches { ELEMENT[at0030] occurrences matches {0..1} matches { -- Description value matches { DV_TEXT matches {*} } } ELEMENT[at0055] occurrences matches {0..1} matches { -- Genetic predisposition? value matches { DV_BOOLEAN matches { value matches {True} } } } ELEMENT[at0056] occurrences matches {0..1} matches { -- Inheritance type value matches { DV_TEXT matches {*} } } CLUSTER[at0031] occurrences matches {0..*} matches { -- Affected family items cardinality matches {1..*; unordered} matches { ELEMENT[at0032] occurrences matches {0..1} matches { -- Relationship value matches { DV_CODED_TEXT matches { defining_code matches { [local:: at0037, -- First degree relative at0038, -- Second degree relative at0039, -- Third degree relative at0042, -- Genetic family at0050] -- Non-genetic family } } } } ELEMENT[at0051] occurrences matches {0..1} matches { -- Family line value matches { DV_CODED_TEXT matches { defining_code matches { [local:: at0040, -- Maternal line at0041] -- Paternal line } } } } ELEMENT[at0033] occurrences matches {0..1} matches { -- Biological sex value matches { DV_CODED_TEXT matches { defining_code matches { [local:: at0043, -- Male at0044, -- Female at0052] -- Indeterminate/Intersex/Unspecified } } } } ELEMENT[at0034] occurrences matches {0..1} matches { -- Number affected value matches { DV_COUNT matches { magnitude matches {|>=0|} } } } ELEMENT[at0054] occurrences matches {0..1} matches { -- Number eligible value matches { DV_COUNT matches { magnitude matches {|>=0|} } } } } } } } ontology term_definitions = < ["en"] = < items = < ["at0000"] = < text = <"Family prevalence"> description = <"Summary information about the prevalence of a risk factor, problem or diagnosis in all family members."> > ["at0030"] = < text = <"Description"> description = <"Narrative description about occurrence in family members."> > ["at0031"] = < text = <"Affected family"> description = <"Details about the numbers of family members affected."> comment = <"This cluster will be repeated for each relationship, family line, sex value or combination of all three. For example, the cluster will be repeated for any or all of first degree relative (without sex specified), first degree relative from maternal line; first degree male relative or first degree female relative; or all males, all females."> > ["at0032"] = < text = <"Relationship"> description = <"The degree of relationship between the subject of care and a selected group of family members."> > ["at0033"] = < text = <"Biological sex"> description = <"The biological sex of the family member/s."> > ["at0034"] = < text = <"Number affected"> description = <"The number of family members known to be affected."> comment = <"This is the number of family members who are affected AND who also fit selected relationship, family line and sex criteria. Effectively this number is the numerator for calculation of an 'Affected ratio'."> > ["at0037"] = < text = <"First degree relative"> description = <"50% genetic share with the subject - for example, parent, sibling or child."> > ["at0038"] = < text = <"Second degree relative"> description = <"25% genetic share with the subject - for example, grandparent, aunt, uncle, niece, nephew, grandchildren and half siblings."> > ["at0039"] = < text = <"Third degree relative"> description = <"12.5% genetic share with the subject - for example, great grandparent, great aunt, great uncle, first cousin, children of nieces and nephews, and great grandchildren."> > ["at0040"] = < text = <"Maternal line"> description = <"Related through the subject's mother."> > ["at0041"] = < text = <"Paternal line"> description = <"Related through the subject's father."> > ["at0042"] = < text = <"Genetic family"> description = <"All genetically-related family members."> > ["at0043"] = < text = <"Male"> description = <"Family member who is biologically male."> > ["at0044"] = < text = <"Female"> description = <"Family member who is biologically female."> > ["at0050"] = < text = <"Non-genetic family"> description = <"All non-genetic family members."> > ["at0051"] = < text = <"Family line"> description = <"Identification of the maternal or paternal family line in the relationship."> comment = <"Only for use with genetic family members."> > ["at0052"] = < text = <"Indeterminate/Intersex/Unspecified"> description = <"Family member who either has the biological attributes of both sexes or lacks some of the biological attributes considered necessary to be defined as one or the other sex."> > ["at0054"] = < text = <"Number eligible"> description = <"The number of eligible family members."> comment = <"This is the number of family members who potentially could be affected AND who also fit selected relationship, family line and sex criteria. Effectively this number is the denominator for calculation of an 'Affected ratio'."> > ["at0055"] = < text = <"Genetic predisposition?"> description = <"Is there a genetic basis for the identified risk factor, problem or diagnosis?"> comment = <"Optional to record as True if there is a recognised genetic predisposition. In many cases, this may be inferred from the risk factor, problem or diagnosis and not need to be recorded explicitly."> > ["at0056"] = < text = <"Inheritance type"> description = <"Category of inheritance for the identified risk factor, problem or diagnosis."> comment = <"For example: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, codominant, or mitochondrial."> > > > ["pt-br"] = < items = < ["at0000"] = < text = <"Prevalência Familiar"> description = <"Resumo das informações sobre a prevalência de um fator de risco, o problema ou o diagnóstico em todos os membros da família."> > ["at0030"] = < text = <"Descrição"> description = <"Descrição narrativa sobre ocorrência em membros da família."> > ["at0031"] = < text = <"Familiares afetados"> description = <"Detalhes sobre o número de membros da família afetados"> comment = <"Este cluster será repetido para cada relação, linha de família, valor do sexo ou combinação dos três. Por exemplo, o cluster será repetido para qualquer um ou todos de primeiro grau relativo (sem sexo especificado), primeiro grau relativo de linha materna; primeiro grau de parente masculino ou primeiro grau de parente feminino; ou todos os homens, ou todas as mulheres."> > ["at0032"] = < text = <"Relacionamento"> description = <"O grau de relacionamento entre o sujeito do cuidado e o grupo selecionado dos membros da família."> > ["at0033"] = < text = <"Sexo Biológico"> description = <"O sexo biológico dos membros da família."> > ["at0034"] = < text = <"Número de afetados"> description = <"O número de membros da família conhecido por serem afetados"> comment = <"Este é o número de membros da família que são afetados e que também se encaixam na relação selecionada, linhagem familiar e critérios de sexo. Efetivamente, este número é o numerador para o cálculo de uma proporção de afetados."> > ["at0037"] = < text = <"Relação de Primeiro Grau"> description = <"50% compartilhamento genético com o sujeito - por exemplo, pais, irmãos ou filhos"> > ["at0038"] = < text = <"Relação de Segundo Grau"> description = <"25% compartilhamento genético com o sujeito - por exemplo, avós, tia, tio, sobrinha, sobrinho, netos. e meio-irmãos"> > ["at0039"] = < text = <"Relação de Terceiro Grau"> description = <"12,5% compartilhamento genético com o sujeito - por exemplo, bisavós, tia-avó, tio-avô, primo de segundo grau, filhos de sobrinhos e de sobrinhas e bisnetos."> > ["at0040"] = < text = <"Linha materna"> description = <"Assuntos relacionados à família materna."> > ["at0041"] = < text = <"Linha Paterna"> description = <"Assuntos relacionados à linha paterna."> > ["at0042"] = < text = <"Genética familiar"> description = <"Todos os membros da família geneticamente relacionados."> > ["at0043"] = < text = <"Masculino"> description = <"Membros da família que são biologicamente do sexo masculino."> > ["at0044"] = < text = <"Feminino"> description = <"Membros da família que são biologicamente do sexo feminino."> > ["at0050"] = < text = <"Família Não Genética"> description = <"Todos os membros da família não-genética."> > ["at0051"] = < text = <"Linha Familiar"> description = <"Identificação da linha familiar materna ou paterna na relação"> comment = <"Somente para uso com membros genéticos da família."> > ["at0052"] = < text = <"Indeterminado/Intersexo/Inespecífico"> description = <"Membro da família que possui os atributos biológicos de ambos os sexos ou carece de alguns dos atributos biológicos considerados necessários para ser definido como um ou outro sexo."> > ["at0054"] = < text = <"Números de elegíveis"> description = <"O número de membros elegíveis da família."> comment = <"Este é o número de membros da família que potencialmente poderiam ser afetados, e que também se encaixam a relação selecionada, linhagem familiar e critérios de sexo. Este número é, efetivamente, o denominador para cálculo da proporção de afetados."> > ["at0055"] = < text = <"Predisposição genética?"> description = <"Há uma base genética para o fator de risco identificado, o problema ou o diagnóstico?"> comment = <"Opção de gravação como True se houver uma predisposição genética reconhecida. Em muitos casos, isso pode ser inferido a partir do fator de risco, o problema ou o diagnóstico e não precisa ser gravado explicitamente."> > ["at0056"] = < text = <"Tipo de Herança"> description = <"Categoria de herança para o identificar o diagnóstico, problema ou fator de risco."> comment = <"Por exemplo: autossômica dominante, autossômica recessiva, dominante ligada ao X, recessiva ligada ao X, co-dominante, ou mitocondrial."> > > > ["de"] = < items = < ["at0000"] = < text = <"Familienprävalenz"> description = <"Zusammenfassung von information über die Prävalenz eines Risikofaktors, eines Problems oder einer Diagnose bei allen Familienmitgliedern."> > ["at0030"] = < text = <"Beschreibung"> description = <"Beschreibung des Ereignis bei den Familienmitgliedern."> > ["at0031"] = < text = <"Betroffene Familienmitglieder"> description = <"Angaben über die Anzahl der betroffenen Familienmitglieder."> comment = <"Dieses Cluster wird für jede Verwandtschaft, Familienlinie, Geschlechtswert oder Kombination aller drei wiederholt. Zum Beispiel wird dieses Cluster für einen oder alle männlichen Verwandten ersten Grades (ohne Geschlecht angegeben), einen Verwandten ersten Grades von der mütterlichen Linie, einen Verwandten ersten Grades männlichen Verwandten oder weiblichen Verwandten ersten Grades oder alle männlichen, alle weiblichen Verwandten wiederholt. "> > ["at0032"] = < text = <"Verwandtschaft"> description = <"Der Verwandtschaftsgrad zwischen dem Pflegebedürftigen und einer bestimmten Gruppe von Familienmitgliedern."> > ["at0033"] = < text = <"Biologisches Geschlecht"> description = <"Das biologische Geschlecht des/der Familienmitglieder(s)."> > ["at0034"] = < text = <"Anzahl der Betroffenen"> description = <"Die Anzahl der Familienmitglieder, von denen bekannt ist, daß sie betroffen sind."> comment = <"Die Anzahl der betroffenen Familienmitglieder, die auch zu ausgewählten Beziehungs-, Familienlinien- und Geschlechterkriterien passen. Diese Zahl ist faktisch der Zähler für die Berechnung eines \"Affected Ratio\". "> > ["at0037"] = < text = <"Verwandter ersten Grades"> description = <"50% genetischer Anteil mit dem Patienten - zum Beispiel Elternteil, Geschwister oder Kind."> > ["at0038"] = < text = <"Relativ zum zweiten Grad"> description = <"25% genetischer Anteil mit dem Patienten - zum Beispiel Großeltern, Tanten, Onkel, Nichten, Neffen, Enkelkinder und Halbgeschwister."> > ["at0039"] = < text = <"Relativ dritten Grades"> description = <"12,5% genetischer Anteil mit dem Patienten - zum Beispiel Urgroßeltern, Großtante, Großonkel, Erster Cousin, Kinder von Nichten und Neffen und Urenkelkinder."> > ["at0040"] = < text = <"Mütterliche Linie"> description = <"Verwandt mit der Mutter des Patienten."> > ["at0041"] = < text = <"Väterliche Linie"> description = <"Verwandt mit dem Vater des Patienten."> > ["at0042"] = < text = <"Genetische Familie"> description = <"Alle genetisch verwandten Familienmitglieder."> > ["at0043"] = < text = <"Männlich"> description = <"Ein biologisches Familienmitglied, das biologisch männlich ist."> > ["at0044"] = < text = <"Weiblich"> description = <"Ein biologisches Familienmitglied, das biologisch weiblich ist."> > ["at0050"] = < text = <"Nichtgenetische Familie"> description = <"Alle nicht-genetischen Familienmitglieder."> > ["at0051"] = < text = <"Familienlinie"> description = <"Bestimmung der mütterlichen oder väterlichen Familienlinie in der Verwandtschaft."> comment = <"Ausschließlich für die Verwendung mit genetischen Familienmitgliedern."> > ["at0052"] = < text = <"Unbestimmt/Intersex/nicht spezifiziert"> description = <"Ein Familienmitglied, das entweder die biologischen Eigenschaften beider Geschlechter hat oder einige der biologischen Eigenschaften nicht aufweist, die als notwendig erachtet werden, um als das eine oder andere Geschlecht definiert zu werden."> > ["at0054"] = < text = <"Anzahl der infrage Kommenden"> description = <"Die Anzahl der infrage kommenden Familienmitglieder."> comment = <"Die Anzahl der Familienmitglieder, die möglicherweise betroffen sein könnten UND die auch zu ausgewählten Beziehungs-, Familienlinien- und Geschlechterkriterien passen. Diese Zahl ist faktisch der Nenner für die Berechnung eines \"Affected Ratio\"."> > ["at0055"] = < text = <"Genetische Veranlagung?"> description = <"Gibt es eine genetische Grundlage für den diagnostizierten Risikofaktors, das Problem oder die Diagnose?"> comment = <"Optionale Eintragung als Wahr, wenn eine anerkannte genetische Prädisposition vorliegt. In vielen Fällen kann dies aus dem Risikofaktor, dem Problem oder der Diagnose abgeleitet werden und muss nicht explizit erfasst werden."> > ["at0056"] = < text = <"Vererbungstyp"> description = <"Kategorie der Vererbung für den ermittelten Risikofaktor, das Problem oder die Diagnose."> comment = <"Zum Beispiel: autosomal dominant, autosomal rezessiv, X-linked dominant, X-linked rezessiv, codominant oder mitochondrial."> > > > ["sv"] = < items = < ["at0000"] = < text = <"Familjär prevalens"> description = <"Sammanfattningsinformation om förekomsten av en riskfaktor, problem eller diagnos hos alla familjemedlemmar."> > ["at0030"] = < text = <"Beskrivning"> description = <"Berättande beskrivning om förekomst hos familjemedlemmar."> > ["at0031"] = < text = <"Berörd familj"> description = <"Detaljer om antalet berörda familjemedlemmar."> comment = <"Denna cluster kommer att upprepas för varje förhållande, familj, könsvärde eller kombination av alla tre. Till exempel kommer cluster att upprepas för några eller alla första graders relativa (utan kön specificerat), första gradens relativ från moderlinjen; första gradens manliga släkting eller första gradens kvinnliga släkting; eller alla män, alla kvinnor."> > ["at0032"] = < text = <"Relation"> description = <"Graden av förhållande mellan patient och en utvald grupp familjemedlemmar."> > ["at0033"] = < text = <"Biologiskt kön"> description = <"Familjemedlemmarnas biologiska kön."> > ["at0034"] = < text = <"Antal berörda"> description = <"Antalet familjemedlemmar som påverkas."> comment = <"Detta är antalet familjemedlemmar som berörs OCH som också passar utvalda förhållanden, härstamning och sexkriterier. Detta nummer är täljaren för beräkning av ett 'Affected ratio'."> > ["at0037"] = < text = <"Förstagradssläkting"> description = <"50% genetisk andel med patienten - till exempel förälder, syskon eller barn."> > ["at0038"] = < text = <"Andragradssläkting"> description = <"25% genetisk andel med patienten- till exempel morförälder, moster, farbror, systerdotter, brorson, barnbarn och halvsyskon."> > ["at0039"] = < text = <"Tredjegradssläkting"> description = <"12,5% genetisk andel med patienten- till exempel farfar, morfar, farbror, kusin, syskonbarnsbarn och barnbarnsbarn."> > ["at0040"] = < text = <"Moderns härstamning"> description = <"Relaterat genom patientens mor."> > ["at0041"] = < text = <"Faderns härstamning"> description = <"Relaterat genom patientens far."> > ["at0042"] = < text = <"Genetisk familj"> description = <"Alla genetiskt relaterade familjemedlemmar."> > ["at0043"] = < text = <"Man"> description = <"Familjemedlem som är biologiskt manlig."> > ["at0044"] = < text = <"Kvinna"> description = <"Familjemedlem som är biologiskt kvinnlig."> > ["at0050"] = < text = <"Icke-genetisk familj"> description = <"Alla icke-genetiska familjemedlemmar."> > ["at0051"] = < text = <"Familjens härstamning"> description = <"Identifiering av moderns eller faderns härstamning i förhållandet."> comment = <"Endast för användning med genetiska familjemedlemmar."> > ["at0052"] = < text = <"Obestämd / intersex / ospecificerad"> description = <"Familjemedlem som antingen har de biologiska attributen för båda könen eller saknar några av de biologiska attribut som anses nödvändiga för att definieras som det ena eller det andra könet."> > ["at0054"] = < text = <"Antal berättigade"> description = <"Antalet berättigade familjemedlemmar."> comment = <"Det här är antalet familjemedlemmar som potentiellt kan påverkas OCH som också passar utvalda förhållanden, härstamning och sexkriterier. Detta nummer är nämnaren för beräkning av ett 'Affected ratio'."> > ["at0055"] = < text = <"Genetisk diates?"> description = <"Finns det en genetisk grund för den identifierade riskfaktorn, problemet eller diagnosen?"> comment = <"Valfritt att registrera som sant om det finns en erkänd genetisk diates. I många fall kan detta framgå från riskfaktorn, problemet eller diagnosen och behöver inte registreras uttryckligen."> > ["at0056"] = < text = <"Arvstyp"> description = <"Arvskategori för den identifierade riskfaktorn, problemet eller diagnosen."> comment = <"Till exempel: autosomal dominant, autosomal recessiv, X-länkad dominant, X-länkad recessiv, kodominant eller mitokondriell."> > > > >