2.16.840.1.113883.10.20.20.1.9.3/static-2013-02-01T000000

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Id2.16.840.1.113883.10.20.20.1.9.3
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameReferencesSectionAnzeigenameReferences Section
Beschreibung
EN-US.png The ReferencesSection section consists of references to scientific literature that supports the description of the test. It nests within the TestInformationSection and its text attribute consists of a narrative describing scientific references of the genetic test, and optionally structured entries representing publications identified through common ids like PubMed ids and OMIM ids. For instance, PubMed id's may be provided as references to peer reviewed journal articles. OMIM id's may be provided to OMIM (Online Mendelian Inheritance in Man) records containing currated information (from peer reviewed literature).
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.9.3
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07)
ref
ad1bbr-
Beispiel
Beispiel
<section>
  <templateId root="2.16.840.1.113883.10.20.20.1.9.3"/>  <title>References</title>  <text>
    <list>
      <item>
        <content>
Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del
Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing
allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11.
</content>
      </item>
      <item>
        <content>
Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness
Homepage. http://www.crg.es/deafness.
</content>
      </item>
      <item>
        <content>
del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S,
Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E,
Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich
D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL,
Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and
evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus
in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73:
1452-1458.
</content>
      </item>
      <item>
        <content>
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling
WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal
recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9.
</content>
      </item>
      <item>
        <content>
Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in
patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg.
2001 Sep;127(9):1037-42.
</content>
      </item>
      <item>
        <content>
Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants
and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med.
2002;4(4): 258-74.
</content>
      </item>
      <item>
        <content>
Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated
with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8.
</content>
      </item>
      <item>
        <content>
Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz
M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British
Asian families. J Med Genet. 2001 Aug;38(8):530-3.
</content>
      </item>
      <item>
        <content>
Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1
(Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics
Information Resource (database online). http://www.genetests.org.
</content>
      </item>
      <item>
        <content>
Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J,
Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P,
Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR,
Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin
M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz
M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M,
Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F,
Mondain M, Hoefsloot, LH Cremers CWRJ, Lopponen T, Lopponen H, Parving A,
Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G,
Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P,
Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation
for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57.
</content>
      </item>
    </list>
  </text>
</section>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Ref...ion)
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II1 … 1M(Ref...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.9.3
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 ConstraintEN-US.png
Gtr References Section MAY contain a code that represents scientific references cited by the Background and
Methodology sections (e.g., LOINC code 34093-5, "References section").
Treetree.pnghl7:title
1 … 1RCONF...R‑15
 ConstraintEN-US.png
Title SHALL contain text that implies "Scientific references cited by the Background and Methodology
sections"