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Guidelines for Researchers Using Data SURVEILLANCE OF CEREBRAL PALSY IN EUROPE - SCPE SCPE GUIDELINES JRC-SCPE Central Registry CODING SYNDROMES SCPE Guidelines n°4 Version 1.0 SCPE3 3 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding syndromes SCPE Guidelines Coding syndromes - Version 1.0 Last revision: SCPE3 Author: Grenoble center Approved by [name] the [date] Aim: To help CP registers in coding syndroms To be disseminated to: – SCPE members – website (private part) Content: I. Syndromes: Descriptions and codes II. Conditions which should NOT be coded as syndromes III. List of syndromes diagnosed in cases stored in the SCPE Common database SCPE Guide SCPE Guidelines – G4 Coding syndromes Page 2 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding syndromes I. Syndromes: Descriptions and codes The codes to be used are from the International Classification of Diseases (ICD) v10 with British Paediatric Association (BPA) extensions. For coding at inclusion in the database, it is important to use the 3-digit codes of the ICD10 and to give written text descriptions Description ICD10-BPA* Syndromes Aarskog syndrome Q8710 Achondroplasia Q774 Acrocephalopolysyndactyly (all types) Q8700 Aglosso-adactyly Q878 Alagille syndrome Q4471 Albers-Schonberg syndrome (osteopetrosis) Q782 Alport's syndrome Q8780 Angelman syndrome Q8785 Apert's syndrome (acrocephalosyndactyly type I and II) Q8701 Bardet-Biedl syndrome Q8781 Beckwith-Wiedemann syndrome (EMG syndrome) Q8730 Blepharophimosis-Ptosis syndrome Q100 Cockayne's syndrome Q8711 Camurati-Engelmann disease (diaphyseal dysplasia) Q783 Chondrodysplasia punctata (Conradi-Hunermann etc) Q773 Cleidocranial dysplasia Q7402 Congenital Rubella syndrome P350 Congenital Cytomegalovinis (CMV) syndrome P351 Congenital Toxoplasmosis P371 Cornelia de Lange syndrome (de Lange syndrome) Q8712 Crouzon's disease (craniofacial dysostosis type I) Q751 Diastrophic dysplasia Q775 Di George syndrome D821 Dubowitz syndrome Q8713 Ehlers-Danlos syndrome Q796 Ellis-van Creveld syndrome Q776 Fetal alcohol syndrome Q860 Fragile X syndrome Q992 Fraser's syndrome (cryptophthalmos-syndactyly) Q112 SCPE Guide SCPE Guidelines – G4 Coding syndromes Page 3 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding syndromes Gorlin-Chaudhry-Moss syndrome Q878 Hallermann-Streiff syndrome Q8705 Holt-Oram syndrome (heart-hand syndrome) Q8720 Incontinentia pigmenti Q823 Ivemark syndrome Q206 Jervell-Lange-Nielsen syndrome Q878 Jeune’s syndrome (asphyxiating thoracic dystrophy) Q772 Q043 Joubert syndrome if associated with coloboma of retina Q878 Kartagener's syndrome Q8934 Kaufman-McKusick syndrome Q518 Klippel-Feil syndrome Q761 Klippel-Trenaunay (-Weber) syndrome (angioosteohypertrophy) Q8721 Larsen's syndrome Q7484 Laurence-Moon syndrome Q8781 Leprechaunism Q878 Leri-Weill syndrome (dyschondrosteosis) Q871B Maffucci syndrome (osteochondromatosis) Q7840 Marchesani (-Weill) syndrome Q875 Marfan's syndrome Q874 Marinesco-Sjogren syndrome Q878 McCune-Albright syndrome (polyostotic fibrous dysplasia) Q781 Meckel Gruber Q6190 Melnick-Fraser syndrome Q178 Metatropic dwarfism Q7780 Nail patella syndrome (onychoosteodysplasia) Q8722 Noonan's syndrome Q8714 Oro-facial-digital syndrome (all types inc.Papillon-Leage and Psaume) Q8707 Osteogenesis imperfecta Type II (neonatal lethal form) Q7800 Otopalatodigital syndrome (all types) Q870B Pena-Shokeir syndrome (fetal akinesia) Q870E Poland's syndrome Q7982 Popliteal pterygium syndrome (Polands anomaly) Q7982 Prader-Willi syndrome Q8715 Robinow-Silverman-Smith syndrome Q8716 Rothmund-Thomson syndrome Q828 Rubinstein-Taybi syndrome Q8723 SCPE Guide SCPE Guidelines – G4 Coding syndromes Page 4 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding syndromes Russell-Silver syndrome Q8717 Schwartz-Jampel syndrome (chondrodystrophic myotonia) G7116 Seckel's syndrome Q8718 Silver's syndrome Q8717 Sjogren-Larsson syndrome Q871A Smith-Lemli-Opitz syndrome Q8719 Sotos syndrome Q8731 Stickler syndrome Q8709 Sturge-Weber syndrome Q8581 TAR syndrome Q8725 Thanatophoric dysplasia Q771 Treacher-Collins syndrome (mandibulofacial dysostosis) Q7541 Tricho-rhino-phalangeal syndrome Q870B Ullrich-Feichtiger's syndrome Q870D Valproate syndrome Q8680 Van der Woude syndrome Q380 Waardenburg's syndrome E7030 Weaver syndrome Q8732 Whistling face syndrome (Freeman-Sheldon syndrome) Q870C Williams syndrome Q8784 Zellweger's disease or syndrome Q8783 Description ICD10-BPA* Microdeletion (if no syndrome code use Q936) Aniridia Wilms tumour syndrome (WAGR) Q936 Deletion 22q11.2 without Di George syndrome Q936 Miller-Dieker Q936 Smith-Magenis Q936 Description ICD10-BPA* Chromosomal syndromes Pallister-Killian (tetrasomia 12p) Q922 Cri du chat syndrome Q934 Down Q900-Q909 Edwards Q910-Q913 Klinefelter Q980 Patau's syndrome Q914-Q917 SCPE Guide SCPE Guidelines – G4 Coding syndromes Page 5 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding syndromes Turner Q960-Q969 Wolff-Hirschorn syndrome Q933 Description ICD10-BPA* Associations CHARGE association Q300 Goldenhar's syndrome (oculoauriculovertebral dysplasia) Q8704 MURCS syndrome/association Q518 VATER association Q8726 II. Conditions Which Should NOT Be Coded As Syndromes Description ICD10-BPA* Sequences Moebius sequence Q8706 Pierre Robin sequence Q8708 Potter’s sequence Q606 Prune Belly sequence Q794 Sirenomelia Q8724 Description ICD10-BPA* Malformations with syndrome names but not a syndrome Arnold-Chiari syndrome Q070 Constriction ring syndrome of upper limb NOS Q719 Constriction ring syndrome of lower limb NOS Q729 Cyclops syndrome Q8703 Dandy-Walker syndrome/malformation Q031 Eisenmenger syndrome Q2181 Herlitz syndrome (epidermolysis bullosa) Q811 Hypoplastic left heart syndrome Q234 Lutembacher's syndrome (ASD+mitral stenosis) Q2114 Marcus Gunn's syndrome/phenomenon Q0780 Megacystis-megaureter syndrome/sequence Q6476 Pyle syndrome Q785 Scimitar syndrome Q268 Siemen's syndrome Q828 Taussig-Bing syndrome Q201 SCPE Guide SCPE Guidelines – G4 Coding syndromes Page 6 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding syndromes III. List of syndromes diagnosed in cases stored in the SCPE Common database Name Numbers Aase 1 Aicardi 1 Angelmann 2 Apert 2 Beckwith-Wiedemann 1 Cornelia de Lange 2 Di George 2 Fetal alcohol syndrome 1 Fraser 1 Goldenhar 1 Incontinentia Pigmenti 2 Joubert 6 Kabuku Make-up 1 Klippel-Feil 1 Noonan 2 Oro-facial-digital 1 Prader-Willi 1 Salomon 1 Smith-Lemli-Opitz 2 Stickler 1 Sturge-Weber 4 VATER 1 Weaver 1 Zellweger 1 SCPE Guide SCPE Guidelines – G4 Coding syndromes Page 7 .
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