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Guidelines for Researchers Using Data SURVEILLANCE OF CEREBRAL PALSY IN EUROPE - SCPE SCPE GUIDELINES JRC-SCPE Central Registry CODING CONGENITAL ANOMALIES SCPE Guidelines n°3 Version 1.0 2005-2006 3 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies SCPE Guidelines Coding congenital anomalies - Version 1.0 Last revision: 2005-2006 Author: E Garne, H Dolk, EUROCAT Approved by: SCPE Data WG Aim: To help CP registers in collecting and coding congenital anomalies as recommended by EUROCAT To be disseminated to: – SCPE members – website (private part) Content: I. Recommendations from EUROCAT for collecting data and coding on Congenital malformations II. Coding proposals Appendix: Codes for malformations from the Q-chapter ICD10/BPA SCPE Guide SCPE Guidelines – G3 Coding congenital anomalies, EUROCAT recommendations – 2005-2006 Page 2 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies I. Recommendations from EUROCAT for collecting data and coding on Congenital malformations. Cerebral malformations. Several classification systems for cerebral malformations have been proposed. A recent publication from Barkovich et al1 use a system based on the stage of development at which cortical development was first affected. For this classification system clinical information and neuro-imaging features are necessary. As the classification system requires access to the written text of the MR-scans it may be problematic for the SCPE-database. Other published classification systems are based on pathology or molecular genetics. For data analysis and comparing between registries it is important to take into account if the diagnosis is based on neuro-imaging information or if there was no neuro- imaging performed. The most simple classification system will be to follow the ICD10-codes, with BPA extensions. For coding of the malformations at inclusion in the database it is important to use the 3-digit Q codes in ICD10 and to give written text descriptions. Written text together with the Q-code is very important. The Q-chapter of ICD10 is grouped by organ system. Subgroups for the data analysis could be based on the 2 -digit chapters. For statistical analysis the chapters may be grouped to one group per organ system depending on the aim of the analysis. EUROCAT has recently re-defined their malformation subgroups for reporting prevalence and performing statistical surveillance. These subgroups are available at the website: http://www.eurocat.ulster.ac.uk/pubdata/Publications.html (to be updated). For coding of cleft palate and cleft lip it is important to be aware that only one ICD-code is used to describe the full facial defect. Cleft lip with or without cleft palate is etiologically different from cleft palate. Coding of complex cardiac malformations is difficult without knowledge of paediatric cardiology. Further many newborns requiring intensive care will have an echocardiography performed showing a patent ductus and/or a secundum ASD. These are normal phenomenon’s in the neonatal period and should only be considered a cardiac malformation if the defect persists during infancy. On the other hand, as the CP children are enrolled in the SCPE database at 4 years of age there may also be a group of children that have had a small VSD with early spontaneous closure not reported to the SCPE dataset. Syndromes and chromosomal anomalies. During the last decade an increasing number of syndromes can be related to microdeletions and diagnosed by DNA methods. Therefore the proportion of CP-cases with known syndromes will probably increase. Some of the children in the database may also, after the enrollment in the SCPE database, be diagnosed with a syndrome with or without a microdeletion. Diagnosis of a syndrome may be easier after the first year of life. Therefore by comparing data between EUROCAT and SCPE for the same time period, there may be more cases with diagnosed syndromes in the SCPE database than in the EUROCAT database. It is generally agreed among geneticists that microdeletions should be classified as syndromes and not as chromosomal anomalies. II. Coding proposals 1. All registries send specified written text information to the central SCPE registry. 2. Code microcephaly and hydrocephaly as a malformation only if they are not acquired. 3. Definition of a syndrome is given in EUROCAT Guide 6, available at the website: http://www.eurocat.ulster.ac.uk/pubdata/Publications.html. (web address to be updated). The guide also includes definitions of sequences and associations and gives the specified ICD10/BPA codes for many syndromes. 4. Chromosomal anomaly should only be coded if a chromosomal test is performed. Microdeletions should be classified as syndromes and not as chromosomal anomalies. 1 Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. A developmental and genetic classification for malformations of cortical development. Neurology. 2005 Dec 27;65(12):1873-87. Review. SCPE Guide SCPE Guidelines – G3 Coding congenital anomalies, EUROCAT recommendations – 2005-2006 Page 3 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies 5. For optimal use of the variable “brain malformations”, it should be mentioned in the case report for each case, if the diagnosis is based on neuro-imaging or if this has not been performed. 6. It should be encouraged to use ICD10 3-digit codes. If this is not possible, written text is better than short codes. Further the use of unspecified codes should be avoided. 7. Congenital infections: code the infection as a syndrome if you are certain that this is the cause of CP (e.g. CMV with microcephaly), and describe the malformation(s) in brain and/or congenital items. If you are not sure of the aetiology, it should rather be coded under congenital anomaly. 8. Some disease pertaining to malformations are coded with ICD codes differ ent from ICD10-Q. They are listed at the end of the Appendix. SCPE Guide SCPE Guidelines – G3 Coding congenital anomalies, EUROCAT recommendations – 2005-2006 Page 4 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies APPENDIX Codes for malformations from the Q-chapter ICD10/BPA Congenital malformations, deformations and chromosomal abnormalities Excludes: inborn errors of metabolism (E70-E90) This chapter contains the following blocks: Q00-Q07 Congenital malformations of the nervous system Q10-Q18 Congenital malformations of eye, ear, face and neck Q20-Q28 Congenital malformations of the circulatory system Q30-Q34 Congenital malformations of the respiratory system Q35-Q37 Cleft lip and palate Q38-Q45 Other congenital malformations of the digestive system Q50-Q56 Congenital malformations of genital organs Q60-Q64 Congenital malformations of the urinary system Q65-Q79 Congenital malformations and deformations of the musculoskeletal system Q80-Q89 Other congenital malformations Q90-Q99 Chromosomal abnormalities, not elsewhere classified Q00-Q07 Congenital malformations of the nervous system Q00 Anencephaly and similar malformations Q00.00 Anencephaly, NOS Acephaly Acrania Amyelencephaly Excludes: hydranencephaly (Q04.35) Q00.01 Incomplete anencephaly Hemianencephaly Hemicephaly Q00.1 Craniorachischisis Rachischisis: . craniospinal . complete . total Q00.2 Iniencephaly Q00.20 Iniencephaly, open Q00.21 Iniencephaly, closed Q01 Encephalocele Q02 Microcephaly Hydromicrocephaly Micrencephalon Excludes: Meckel-Gruber syndrome (Q61.9) microcephaly due to: . congenital infection (P35-P37) . exposure to ionising radiation (Q86.85) SCPE Guide SCPE Guidelines – G3 Coding congenital anomalies, EUROCAT recommendations – 2005-2006 Page 5 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies Q03 Congenital hydrocephalus Includes: hydrocephalus in newborn Excludes: Arnold-Chiari syndrome (Q07.0) hydrocephalus: . acquired (G91.-) . due to congenital toxoplasmosis (P37.1) . with spina bifida (Q05.0-Q05.4) Q03.0 Malformations of aqueduct of Sylvius Aqueduct of Sylvius: . anomaly . obstruction, congenital . stenosis Q03.1 Atresia of foramina of Magendie and Luschka Dandy-Walker syndrome Q03.8 Other congenital hydrocephalus Q03.80 Clover leaf skull Kleeblattschaedel deformity syndrome Q03.9 Congenital hydrocephalus, unspecified Q04 Other congenital malformations of brain Excludes: cyclopia (Q87.03) macrocephaly (Q75.3) Q04.0 Congenital malformations of corpus callosum Q04.00 Agenesis of corpus callosum Q04.1 Arhinencephaly Q04.2 Holoprosencephaly Q04.3 Other reduction deformities of brain Absence } Agenesis } Aplasia } of part of brain Hypoplasia } Excludes: congenital malformations of corpus callosum (Q04.0) Q04.30 Reduction anomalies of cerebrum Q04.31 Reduction anomalies of hypothalamus Q04.32 Reduction anomalies of cerebellum Q04.33 Agyria or lissencephaly Q04.34 Microgyria or pachygyria Polygyria Micropolygyria Q04.35 Hydranencephaly Q04.4 Septo-optic dysplasia Q04.5 Megalencephaly Q04.6 Congenital cerebral cysts Porencephaly Schizencephaly Excludes: acquired porencephalic cysts (G93.0) Q04.60 Multiple congenital cerebral cysts Q04.61 Single congenital cerebral cyst Q04.8 Other specified congenital malformations of brain Macrogyria Walnut brain Congenital haematocephalus Congenital malformation of cerebral meninges Q04.9 Congenital malformation of brain, unspecified Q05 Spina bifida SCPE Guide SCPE Guidelines – G3 Coding congenital anomalies, EUROCAT recommendations – 2005-2006 Page 6 Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies
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