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

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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

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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 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 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 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.

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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 pertaining to malformations are coded with ICD codes differ ent from ICD10-Q. They are listed at the end of the Appendix.

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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: (Q04.35) Q00.01 Incomplete anencephaly Hemianencephaly Hemicephaly Q00.1 Craniorachischisis : . 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)

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Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies

Q03 Congenital Includes: hydrocephalus in newborn Excludes: Arnold-Chiari syndrome (Q07.0) hydrocephalus: . acquired (G91.-) . due to congenital toxoplasmosis (P37.1) . with (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 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 Q04.6 Congenital cerebral cysts 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

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Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies

Q06 Other congenital malformations of spinal cord Excludes: syringomyelia and syringobulbia (G95.0)

Q06.0 Amyelia Q06.1 Hypoplasia and dysplasia of spinal cord Atelomyelia Myelatelia Myelodysplasia of spinal cord Q06.2 Diastematomyelia Q06.3 Other congenital cauda equina malformations Q06.4 Hydromyelia Hydrorachis Q06.8 Other specified congenital malformations of spinal cord Q06.9 Congenital malformations of spinal cord, unspecified

Q07 Other congenital malformations of nervous system Excludes: familial dysautonomia [Riley-Day] (G90.1) (nonmalignant) (Q85.0) Q07.0 Arnold-Chiari syndrome Q07.8 Other specified congenital malformations of nervous system Agenesis of nerve, NOS Cayler syndrome Congenital facial diplegia Displacement of brachial plexus Nuclear agenesis Excludes: Moebius syndrome (Q87.06) Duane syndrome (H50.8) Q07.80 Jaw-winking syndrome Marcus Gunn's syndrome Q07.81 Optic nerve hypoplasia Congenital optic atrophy Q07.82 Crocodile tears Q07.9 Congenital malformations of nervous system, unspecified

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Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies

Q-chapter subheadings for coding of non-cerebral malformations. ICD10/BPA. The full Q-chapter for coding of malformations can be found at http://www.eurocat.ulster.ac.uk/pubdata/Publications.html (address to be updated)

Q10 Congenital malformations of eyelid, lacrimal apparatus and orbit Q11 Anophthalmos, microphthalmos and macrophthalmos Q12 Congenital lens malformations Q13 Congenital malformations of anterior segment of eye Q14 Congenital malformations of posterior segment of eye Q15 Other congenital malformations of eye Q16 Congenital malformations of ear causing hearing impairment Q17 Other congenital malformations of ear Q18 Other congenital malformations of face and neck Q20 Congenital malformations of cardiac chambers and connections Q21 Congenital malformations of cardiac septa Q22 Congenital malformations of pulmonary and tricuspid valves Q23 Congenital malformations of aortic and mitral valves Q24 Other congenital malformations of heart Q25 Congenital malformations of great arteries Q26 Congenital malformations of great Q27 Other congenital malformations of peripheral vascular system Q28 Other congenital malformations of circulatory system Q30 Congenital malformations of nose Q31 Congenital malformations of larynx Q32 Congenital malformations of trachea and bronchus Q33 Congenital malformations of lung Q34 Other congenital malformations of respiratory system Q35 Cleft palate Q36 Cleft lip Q37 Cleft palate with cleft lip Q38 Other congenital malformations of tongue, mouth and pharynx Q39 Congenital malformations of oesophagus Q40 Other congenital malformations of upper alimentary tract Q41 Congenital absence, atresia and stenosis of small intestine Q42 Congenital absence, atresia and stenosis of large intestine Q43 Other congenital malformations of intestine Q44 Congenital malformations of gallbladder, bile ducts and liver Q45 Other congenital malformations of digestive system Q50 Congenital malformations of ovaries, fallopian tubes and broad ligaments Q51 Congenital malformations of and cervix Q52 Other congenital malformations of female genitalia Q53 Undescended testicle Q54 Hypospadias Q55 Other congenital malformations of male genital organs Q56 Indeterminate sex and pseudohermaphroditism Q60 Renal agenesis and other reduction defects of kidney Q61 Cystic kidney disease Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter Q63 Other congenital malformations of kidney Q64 Other congenital malformations of urinary system Q65 Congenital deformities of Q66 Congenital deformities of feet Q67 Congenital musculoskeletal deformities of head, face, spine and chest Q68 Other congenital musculoskeletal deformities Q69 Q70 Q71 Reduction defects of upper limb Q72 Reduction defects of lower limb

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Surveillance of Cerebral Palsy in Europe SCPE Guidelines – Coding congenital anomalies

Q73 Reduction defects of unspecified limb Q74 Other congenital malformations of limb(s) Q75 Other congenital malformations of skull and face bones Q76 Congenital malformations of spine and bony Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine Q78 Other osteochondrodysplasias Q79 Congenital malformations of the musculoskeletal system, not elsewhere classified Q80 Congenital ichthyosis Q81 Epidermolysis bullosa Q82 Other congenital malformations of skin Q83 Congenital malformations of breast Q84 Other congenital malformations of integument Q85 Phakomatoses, not elsewhere classified Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified Q87 Other specified congenital malformation syndromes affecting multiple systems Q89 Other congenital malformations, not elsewhere classified Q90 Down's syndrome Q91 Edward's syndrome and Patau's syndrome Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified Q93 Monosomies and deletions from the autosomes, not elsewhere classified Q95 Balanced rearrangements and structural markers, not elsewhere classified Q96 Turner's syndrome Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified Q99 Other chromosome abnormalities, not elsewhere classified

Outside malformation chapter codes to include ICD10-BPA codes Di George syndrome D821 Cystic hygroma D1810 Congenital rubella P350 Congenital CMV P351 Congenital toxoplasmosis P371 Haemangioma (more than 4 cm2)* Sacral teratoma* D215 * For these malformations there are unsolved coding problems

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