SURVEILLANCE OF CEREBRAL PALSY IN EUROPE - SCPE

SCPE GUIDELINES

JRC-SCPE Central Registry CODING

SCPE Guidelines n°4 Version 1.0 SCPE3

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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. 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 Q8710

Achondroplasia Q774

Acrocephalopolysyndactyly (all types) Q8700

Aglosso-adactyly Q878

Alagille syndrome Q4471

Albers-Schonberg syndrome () 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

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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 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 () 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 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

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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 Q8732 Whistling face syndrome (Freeman-Sheldon syndrome) Q870C 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

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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

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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

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