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