Congenital Anomaly Atlases and Manuals for diagnosis and coding

A selection of common birth defects with multiple photographs and illustrations as well as ICD-10 classification and RCPCH extension codes

International Classification of Disease v10. Chapter XVII.  With RCPCH extension

Congenital anomalies are coded with Q codes in Chapter XVII available in online and paper versions.  There are 3 digits after the letter Q. Many congenital anomaly surveillance systems recommend using the Royal College of Paediatrics and Child Health(RCPCH)/British Paediatric Association(BPA) extension code with one extra digit added to the ICD10 Q code. 

ICD v10 Chapter XVII

ICD v10 Chapter XVII with RCPCH extension

Note that ICDv11 has recently been released but is not yet in general use.  See ICD-11 diagnosis — 20 Developmental anomalies

WHO/CDC/ICBDSR Quick Reference Handbook of Selected Congenital Anomalies and Infection 

This handbook is a companion tool to Birth defects surveillance: a manual for programme managers.  It contains images, diagrams and information on neural tube defects, cleft lip and palate, genital anomalies, upper and lower limb defects and abdominal wall defects as well as their ICD-10 classification and RCPCH extension codes.  This handbook covers major external malformations seen after birth and is intended to assist the user with development of local surveillance protocols by providing healthcare professionals with a resource to identify birth defects.

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Global Birth Defects App

The Global Birth Defects Description and Coding (GBDDC) App, a freely available app found on Google Play and the App Store, is for use in areas where local expertise in congenital anomaly diagnosis is scarce.  The purpose of the App is to improve the description and coding of major externally visible congenital anomalies for surveillance and research.

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ECLAMC Congenital Abnormalities Atlas

This atlas is an online browser of congenital anomalies and is intended for the use of healthcare professionals as well as those involved in coding and registration of congenital anomalies.  The atlas covers a wide range of major and minor external malformations as well as some internal anomalies.  Anomalies can be searched for through body region, name or ICD-10 code. The atlas contains an extensive catalogue of photographs.

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Birth Defects Manual of the Lebanon National Collaborative Perinatal Neonatal Network

This manual (published May 2012) was developed by the National Collaborative Perinatal Neonatal Network (NCPNN) in line with their mission to improve on maternal and newborn health outcomes.  The manual is available in ArabicFrench and English, and describes the major congenital anomalies, both externally visible and internal, with photos, diagrams, description of the defect, symptoms and commonly associated anomalies. It is aimed at research assistants, nurses and general physicians participating in the surveillance network, in order to improve on birth defect recognition, diagnosis and reporting. In addition to the online version, hard copies of those manuals were distributed to all hospitals across Lebanon, in collaboration with the Ministry of Public Health, to assist health care providers in the identification of Birth defects. Training workshops on the identification and reporting of birth defects for health care providers in the six provinces of Lebanon, were also organized by the NCPNN. Data collection forms were also developed and implemented in all hospitals to report birth defects to the ministry of health. This led to the establishment of the National Birth Defects Surveillance System, funded by the U.S. Centers for Disease Control and Prevention (CDC).

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EUROCAT Syndrome Guide. Definition and Coding of Syndromes (Revised 2017)

The Syndrome Guide is intended for use by EUROCAT congenital anomaly registries with a primary purpose of congenital anomaly surveillance and epidemiological research. The aim is to help the coders to code properly and with sufficient details rare genetic syndromes, skeletal dysplasias, associations and sequences. The list of syndromes concentrates on those which are mostly diagnosed in early infancy or prenatally, commonly associated with structural malformations and/or found in the Q-chapter of ICD10/BPA. A future, on-line version could include additional rare conditions usually presenting at birth and associated with congenital anomalies. The Guide gives ICD10/BPA code, ICD9/BPA code, OMIM code and ORPHA number for each syndrome. It also gives a list of conditions which should not be coded as syndromes. Recommendations are given on coding of microdeletion syndromes.

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EUROCAT Guide 3 For the Description and Classification of Congenital Limb Defects

This EUROCAT guide was used as an instruction manual for the coding and reporting of limb defects to the EUROCAT Central Registry.  It includes definitions of limb anomalies as well as descriptions and further sub-classification of them.  This resource also contains a select number of illustrations to help further clarify the type of defect seen.

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Atlas of Human Malformation Syndromes in Diverse Populations.  National Human Genome Research Institute (NHGRI)

The purpose of this atlas is to provide an online tool that can be used to assist clinicians with the diagnosis of human malformation syndromes in diverse populations.  The atlas is still under construction and has a select number of syndromes available at present, such as Down, Turner, Angelman and Sotos Syndrome.  There is a brief description of the syndrome and its incidence followed by a diverse collection of photographs from a variety of regions in Asia, the Indian subcontinent, the Middle-East, South America, and sub-Saharan Africa.  This allows the user to consider ethnicity when assessing the phenotype.  There is also a facility that allows the user to contribute photographs to the atlas with appropriate consent.

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Elements of Morphology: Human Malformation Terminology.  NHGRI

This online resource provides the user with standardised terminology for describing the human phenotype.  It was developed by clinicians working in the field of dysmorphology and contains information on the terminology of dysmorphism the head, face, periorbital region, ears, nose, philtrum, mouth, hands and feet.  The site also contains photographs to demonstrate each feature. Additional information on this resource is freely available in the special issue of the American Journal of Medical Genetics.

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Paediatric Surgery:  A Comprehensive Text for Africa

Produced by Global HELP, professional editors, and more than one-hundred-and-fifty medical experts from around the world, this is an essential resource for those in Africa where there has been a lack of appropriate and affordable medical material. This is a book written by doctors who live or work in Africa and for African surgeons and patients alike.  This textbook can be used for diagnosis and coding as well.

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Updated Strategies for Pulse Oximetry Screening for Critical Congenital Heart Disease

Pulse oximetry is a simple and important tool to screen for critical congenital heart disease. This paper, accompanied by a 5 minute video, presents the updated recommendations for the United States, with global relevance.

Updated Strategies for Pulse Oximetry Screening for Critical Congenital Heart Disease | Pediatrics | American Academy of Pediatrics (