Anatomy and Pathophysiology

Transcription

1 Anatomy and Pathophysiology for ICD Module 14

2 Disclaimer This course was current at the time it was published. This course was prepared as a tool to assist the participant in understanding how to prepare for ICD-10-CM. Although every reasonable effort has been made to assure the accuracy of the information within these pages, the ultimate responsibility of the use of this information lies with the student. AAPC does not accept responsibility or liability with regard to errors, omissions, misuse, and misinterpretation. AAPC employees, agents, and staff make no representation, warranty, or guarantee that this compilation of information is error-free and will bear no responsibility, or liability for the results or consequences of the use of this course. AAPC does not accept responsibility or liability for any adverse outcome from using this study program for any reason including undetected inaccuracy, opinion, and analysis that might prove erroneous or amended, or the coder s misunderstanding or misapplication of topics. Application of the information in this text does not imply or guarantee claims payment. Inquiries of your local carrier(s) bulletins, policy announcements, etc., should be made to resolve local billing requirements. Payers interpretations may vary from those in this program. Finally, the law, applicable regulations, payers instructions, interpretations, enforcement, etc., may change at any time in any particular area. This manual may not be copied, reproduced, dismantled, quoted, or presented without the expressed written approval of the AAPC and the sources contained within. No part of this publication covered by the copyright herein may be reproduced, stored in a retrieval system or transmitted in any form or by any means (graphically, electronically, or mechanically, including photocopying, recording, or taping) without the expressed written permission from AAPC and the sources contained within. ICD-10 Experts Rhonda Buckholtz, CPC, CPMA, CPC-I, CGSC, CPEDC, CENTC, COBGC VP, ICD-10 Training and Education Shelly Cronin, CPC, CPMA, CPC-I, CANPC, CGSC, CGIC, CPPM Director, ICD-10 Training Betty Hovey, CPC, CPMA, CPC-I, CPC-H, CPB, CPCD Director, ICD-10 Development and Training Jackie Stack, CPC, CPB, CPC-I, CEMC, CFPC, CIMC, CPEDC Director, ICD-10 Development and Training Peggy Stilley, CPC, CPB, CPMA, CPC-I, COBGC Director, ICD-10 Development and Training Illustration copyright OptumInsight. All rights reserved AAPC 2480 South 3850 West, Suite B, Salt Lake City, Utah CODE (2633), Fax , Revised. All rights reserved. CPC, CPC-H, CPC-P, CPMA, CPCO, and CPPM are trademarks of AAPC. ii Anatomy and Pathophysiology for ICD-10 UnitedHealthcare 2013 AAPC. All rights reserved.

3 Contents Module 14 Congenital Malformations Terminology Introduction Structure and Function Diseases and Disorders AAPC. All rights reserved. UnitedHealthcare iii

4 Module 14 Congenital Malformations Terminology Clubfoot A congenital malformation where the foot is fixed in an unnatural position (turned downward and inward) preventing the child from placing the sole of the foot on the floor. Coarctation of aorta A congenital heart defect causing localized narrowing of the aorta, which results in increased blood pressure in the upper extremities and decreased blood pressure in the lower extremities. Congenital Present at birth. Cryptorchidism The absence of one or both testicles from the scrotum (undescended testicle). Dwarfism Growth retardation of the body due to deficiency of the human growth hormone. Esophageal atresia A condition where the esophagus ends before it reaches the stomach. Gigantism A proportional overgrowth of the body s tissue due to excessive secretion of the human growth hormone. Hydrocephalus An abnormal accumulation of cerebrospinal fluid (usually under pressure) in the cranium. Hypospadias The urethra opens on the underside of the penis rather than on the end. Microcephalus Abnormal smallness of the head in relation to the rest of the body causing underdevelopment of the brain and some degree of mental retardation. Mitotic nondisjunction When a chromosomal pair fails to separate correctly during cell division. Monosomy A cell has one less chromosome than it normally would. Mosaic An individual that has some cells with abnormal chromosomal make-up while the rest of the cells in the body have typical chromosomal constitution. Reye s syndrome Severe edema of the brain and increased intracranial pressure, hypoglycemia, and fatty infiltration and dysfunction of the liver. Tetrology of Fallot A congenital heart anomaly consisting of four defects: pulmonary stenosis, interventricular septal defect, dextroposition of the aorta so that it receives blood from both ventricles, and hypertrophy of the right ventricle. Translocation A achromosome rearrangement where a piece of one chromosome breaks off and joins to another chromosome. Transposition of the great vessels The two major arteries o the heart are reversed in position, resulting in two noncommunicating circulatory systems. Triploidy Three copies of every chromosome in a cell. Umbilical hernia Intestine protrudes through a weakness in the abdominal wall around the umbilicus. Introduction Any type of defect present at time of birth is known as congenital. In a malformation, the development of a structure is somehow disrupted early in embryonic life and the damage is permanent. Many different organs can be affected by congenital malformations such as facial structure, lungs, heart, intestinal tract, brain, etc. Sometimes the cause for these malformations is unknown and sometimes they are a result of genetics (inherited), toxic exposure of the fetus (such as to drugs or alcohol), or birth injury. There are more than 4,000 different known birth defects, ranging from minor to serious, and although many can be treated or cured, they are the leading cause of death in the first year of life. Structural or metabolic defects are 2013 AAPC. All rights reserved. UnitedHealthcare 1

5 Congenital Malformations Module 14 those in which a specific body part is missing or formed incorrectly due to a problem within the body itself. Structure and Function A chromosome is a structure within cells that contains the cell s genetic material. Humans have about 20,000 to 25,000 genes inherited from their mothers and fathers, which determine traits like eye and hair color; genes also direct the growth and development of every part of the body. That genetic material, which determines how an organism develops, is a molecule of deoxyribonucleic acid (DNA). A molecule of DNA is a very long, coiled structure that contains many identifiable subunits known as genes. Chromosomes contain a single molecule of DNA along with several kinds of proteins. A molecule of DNA, in turn, consists of thousands and thousands of subunits, known as nucleotides, joined to each other in very long chains. A single molecule of DNA within a chromosome may be as long as 8.5 centimeters (3.3 inches). To fit within a chromosome, the DNA molecule has to be twisted and folded into a very complex shape. Humans have 46 chromosomes that are arranged in 23 pairs. Twenty-two pairs of the chromosomes are termed homologous (or autosomes) pairs and the remaining pair is the sex chromosome. Males have one Y chromosome and one X chromosome, and females have two X chromosomes. Genetic disorders and syndromes are the result of errors in the number or structure of the chromosomes. Many children with a chromosomal abnormality have mental and/or physical birth defects, while some may result in miscarriage or stillbirth. An egg or sperm cell may divide incorrectly, resulting in too many or too few chromosomes. When this abnormally divided cell joins with a normal egg or sperm cell, the resulting embryo has a chromosomal abnormality. A common type of chromosomal abnormality is called a trisomy. This means that an individual has three copies of a specific chromosome, instead of two. For example, individuals with Down Syndrome generally have three copies of chromosome 21 (though a small number of cases are caused by chromosomal rearrangements). In most cases, an embryo with the wrong number of chromosomes do not survive causing a miscarriage very early on in the pregnancy. Diseases and Disorders Cleft Lip/Palate Cleft lip and palate are birth defects that affect the upper lip and the roof of the mouth. There are many causes for clefts. Problems with genes passed down from one or both parents, viruses, drugs, or other toxins can all cause the disorder. Cleft lip and palate may occur in conjunction with other syndromes or birth defects. It may occur as a small notch in the lip or it can be a complete split in the lip that goes all the way to the base of the nose (Incomplete or complete). It can occur on one or both sides of the mouth (unilateral or bilateral). A cleft lip indicates that the palate has not been affected. Cleft palate occurs when the two plates of the skull that form the roof of the mouth or hard palate do not completely join. Usually the soft palate is also affected. Unilateral cleft lip No cleft palate Unilateral cleft lip and cleft palate Alveolar ridge Cleft palate Cleft lip with cleft alveolar ridge No cleft palate Copyright OptumInsight. All rights reserved This can also occur as a complete cleft, where both the soft and hard palates are affected. The hole in the roof of the mouth caused by a cleft connects the mouth directly to the nasal cavity. A cleft lip and palate generally affects the appearance of one s face, and may lead to problems with feeding and speech, as well as ear infections. Oftentimes, infants need special feeding nipples to avoid liquids from going through their nose and causing choking. 2 Anatomy and Pathophysiology for ICD-10 UnitedHealthcare 2013 AAPC. All rights reserved.

6 Module 14 Congenital Malformations The ICD-10-CM code range for cleft lip and cleft palate is Q35 Q37. To code cleft lip and cleft palate disorders in ICD-10-CM, the following is necessary: Extent of cleft Laterality Cleft hard palate with bilateral cleft lip Q37.0 Cleft hard palate with unilateral cleft lip Q37.1 Cleft soft palate with bilateral cleft lip Q37.2 Cleft soft palate with unilateral cleft lip Q37.3 Spina Bifida In a normal developing fetus, within the first month of pregnancy, the spine joins together to form the spinal canal to cover the spinal cord and nerves; however, in children with spina bifida, the process is incomplete. The result is that the spinal cord and meninges (spinal cord tissue) stick out of the child s back. The most common type of spina bifida is myelomeningocele. Cervical Thoracic Lumbar Cleft hard and soft palate with bilateral cleft lip Q37.4 Cleft hard and soft palate with unilateral cleft lip Q37.5 Unspecified cleft palate with bilateral cleft lip Q37.8 Meningocele Superior view schematic Dura mater Unspecified cleft palate with unilateral cleft lip Q37.9 Spinal cord Cleft hard palate Q35.1 Cleft soft palate Q35.3 Cleft hard palate with cleft soft palate Q35.5 Cleft uvula Q35.7 Cleft palate, unspecified Q35.9 Cleft lip, bilateral Q36.0 Cleft lip, median Q36.1 Cleft lip, unilateral Q36.9 In the table above, the laterality issue and extend of the cleft is shown. Vertebral body Copyright OptumInsight. All rights reserved Many children with spina bifida also have a condition called hydrocephalus. Hydrocephalus is the buildup of fluid inside the skull that puts pressure on the brain, pushing the brain up against the skull and damaging or destroying brain tissues. Other symptoms that may affect a child with spina bifida are loss of bladder control, partial or complete lack of sensation, partial or complete paralysis of the legs, weakness of the hips, legs, or feet of a newborn. The code range for spina bifida in ICD-10-CM is Q AAPC. All rights reserved. UnitedHealthcare 3

7 Congenital Malformations Module 14 To code spina bifida in ICD-10-CM, the following is necessary: Site Presence of hydrocephalus, as necessary Cervical spina bifida with hydrocephalus Q05.0 Thoracic spina bifida with hydrocephalus Q05.1 Lumbar spina bifida with hydrocephalus Q05.2 Sacral spina bifida with hydrocephalus Q05.3 Unspecified spina bifida with hydrocephalus Q05.4 Cervical spina bifida without hydrocephalus Q05.5 Thoracic spina bifida without hydrocephalus Q05.6 Lumbar spina bifida without hydrocephalus Q05.7 Sacral spina bifida without hydrocephalus Q05.8 Spina bifida, unspecified Q05.9 In the table above, the site issue and presence of hydrocephalus is shown. Congenital Heart Defects Defects in the structure of the heart and great vessels present at birth are known as congenital heart defects (CHD). There are many types of congenital heart defects, which can affect the arteries and veins that carry blood to and from the heart, the interior walls of the heart, or the valves inside the heart. Other defects can affect the rhythm of the heart. Heart defects are among the most common birth defects. Many defects don t need treatment, but some complex congenital heart defects require medication or surgery. The ICD-10-CM code range for congenital malformation of the heart is Q20 Q26. To code congenital heart defects in ICD-10-CM, the following is necessary: Site of defect Common arterial trunk Q20.0 Double outlet right ventricle Q20.1 Double outlet left ventricle Q20.2 Discordant ventriculoarterial connection Q20.3 Double inlet ventricle Q20.4 Discordant arterioventricular connection Q20.5 Atrial septal defect Patent ductus arteriosus Transposition of the great vessels Aortic stenosis Ventricular septal defect Pulmonary stenosis Tetralogy of Fallot Isomerism of atrial appendages Q20.6 Other congenital malformations of cardiac chambers and connections Congenital malformation of cardiac chambers and connections, unspecified Q20.8 Q20.9 Ventricular septal defect Q21.0 Copyright OptumInsight. All rights reserved Atrial septal defect Q21.1 Arterioventricular septal defect Q Anatomy and Pathophysiology for ICD-10 UnitedHealthcare 2013 AAPC. All rights reserved.

8 Module 14 Congenital Malformations Tetralogy of Fallot Q21.3 Aortopulmonary septal defect Q21.4 Other congenital malformations of cardiac septa Congenital malformations of cardiac septum, unspecified Q21.8 Q21.9 Pulmonary valve atresia Q22.0 Congenital pulmonary valve stenosis Q22.1 Congenital pulmonary valve insufficiency Q22.2 Other congenital malformations of pulmonary valve Q22.3 Congenital tricuspid stenosis Q22.4 Ebstein s anomaly Q22.5 Hypoplastic right heart syndrome Q22.6 Other congenital malformations of tricuspid valve Congenital malformation of tricuspid valve, unspecified Q22.8 Q22.9 In the table above, the site of defect issue is shown. The official ICD-10-CM coding guidelines state that codes from chapter 17 may be used throughout the life of the patient. If a congenital malformation or deformity has been corrected, a personal history code should be used to identify the history of the malformation or deformity. Although present at birth, malformation/ deformation/or chromosomal abnormality may not be identified until later in life. Whenever the condition is diagnosed by the physician, it is appropriate to assign a code from codes Q00 Q89. Chromosomal Abnormalities Chromosomal abnormalities usually occur due to a deficiency in the way an egg or sperm cell develops. The cause is not always known, and is generally not related to anything the parent did or did not do during the pregnancy. When the cell with the wrong number of chromosomes joins with a normal embryo or sperm cell, the resulting embryo has a chromosomal abnormality. Down Syndrome A person having three copies of chromosome 21 instead of two copies causes Down syndrome. This is why Down syndrome is also referred to by the name Trisomy 21. Instead of a pair of chromosomes, as is found in all the other chromosomes, number 21 includes three chromosomes. Every cell in a person with Down syndrome will contain 47 chromosomes instead of 46 chromosomes. There are many theories about how the extra chromosome causes the effects of Down syndrome but little is currently known. During cell division to create a germ cell (either sperm or egg), a cell containing 46 chromosomes divides into two germ cells each containing 23 chromosomes. Sometimes this division does not happen properly and one cell may contain 22 chromosomes and the other may contain 24 chromosomes. This can happen if the chromosomes do not properly separate and instead stick together. This is called nondisjunction because the chromosomes have failed to disjoin or split-up. 75% of the time it is the egg cell which carries the additional chromosomal material, 25% of the time it is the sperm cell. If the cell containing 24 chromosomes combines with a cell containing 23 chromosomes, the new cell will contain 47 chromosomes instead of 46. If the trisomy is chromosome 21, the person will have Down syndrome. Other conditions arise if the duplicated chromosome is a different chromosome. If the trisomy is chromosome 13, the person will have Patau s syndrome. If the trisomy is chromosome 18, the person will have Edward s syndrome. These conditions are rarer than Down syndrome and have their own characteristics, which are different than Down syndrome AAPC. All rights reserved. UnitedHealthcare 5

9 Congenital Malformations Module 14 There are three different types of Down syndrome: Standard Trisomy 21 Translocation Mosaicism. Standard Trisomy 21 is when the extra chromosome 21 comes from either the egg or sperm cell. Between 90% and 95% of all Down syndrome is Standard Trisomy 21. Translocation is caused when a piece of chromosome 21 is located on another chromosome such as chromosome 14. The person with Translocation Trisomy 21 will have 46 chromosomes but will have the genetic material of 47 chromosomes. The person with Translocation Trisomy 21 will exhibit all the same characteristics of a person with Standard Trisomy 21 since they have three copies of chromosome 21. Translocation occurs between 3% and 5% of cases of Down syndrome. Mosaicism is when a person has a mix of cells, some containing 46 chromosomes and some containing 47 chromosomes. This occurs either because: a) The person received 46 chromosomes at fertilization but somewhere during early cell division the chromosome 21 cell pairs failed to split creating a cell with 47 chromosomes and a cell with 45 chromosomes. The cell with 45 chromosomes cannot survive but the cell with 47 chromosomes will continue to divide. All cells that come from this cell will contain 47 chromosomes. b) The person received 47 chromosomes at fertilization but later during cell division the extra chromosome is lost. Mosaicism occurs in 2% to 5% of cases of Down syndrome. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located. The vast majority of cases of Down syndrome are not inherited. Only in cases of Translocation Down syndrome and then in only 1 of 3 cases of this type of Down syndrome is the condition inherited. These inherited cases occur because one of the parents is a carrier. A carrier will have 45 chromosomes instead of 46 but they will have all the genetic material of a person with 46 chromosomes. The carrier will not exhibit any of the symptoms of Down syndrome because they have the correct amount of genetic material. A carrier will have an increased chance of having a child with Down syndrome. If the carrier is the mother, the chances are approximately one in five of having a child with Translocation Down syndrome. If the carrier is the father the odds are reduced to between one in twenty to fifty. In all cases of Down syndrome but especially in cases of Translocation Down syndrome, it is important that the parents have genetic counseling to determine their risk. Velo-cardio-facial syndrome Velo-cardio-facial syndrome is a genetic disorder with varying conditions present in each individual with the syndrome. However, conditions that are common to the syndrome include certain heart defects, effects on facial appearance, and lack of or underdeveloped thymus and parathyroid glands. DiGeorge syndrome describes the same clinical features as Velo-cardio-facial syndrome, but an individual must have immune system deficiencies associated with lack of a thymus gland to be considered to have true DiGeorge syndrome. 90 percent of patients with the features of this syndrome are missing a small part of their chromosome 22 at the q11 region. The ICD-10-CM code range for chromosomal abnormalities is Q90 Q99. In order to code for chromosomal abnormalities in ICD-10-CM the following is necessary: Type of abnormality Type of defects present Trisomy 21, nonmosiacism (meiotic Trisomy 21, mosiacism (mitotic Q90.0 Q90.1 Trisomy 21, translocation Q90.2 Down syndrome, unspecified Q Anatomy and Pathophysiology for ICD-10 UnitedHealthcare 2013 AAPC. All rights reserved.

10 Module 14 Congenital Malformations Trisomy 18, nonmosiacism (meiotic Q91.0 Whole chromosome monosomy, mosaicism (mitotic Q93.1 Trisomy 18, mosiacism (mitotic Q91.1 Chromosome replaced with ring, dicentric or isochromosome Q93.2 Trisomy 18, translocation Q91.2 Trisomy 18, unspecified Q91.3 Trisomy 13, nonmosiacism (meiotic Trisomy 13, mosiacism (mitotic Q91.4 Q91.5 Trisomy 13, translocation Q91.6 Trisomy 13, unspecified Q91.7 Whole chromosome trisomy, nonmosiacism (meiotic Q92.0 Deletion of short arm of chromosome 4 Q93.3 Deletion of short arm of chromosome 5 Q93.4 Other deletions of part of a chromosome Q93.5 Deletions with other complex rearrangements Q93.7 Velo-cardio-facial syndrome Q93.81 Other microdeletions Q93.88 Other deletions from the autosomes Q93.89 Deletion from autosomes, unspecified Q93.9 Whole chromosome trisomy, mosiacism (mitotic Q92.1 Balanced translocation and insertion in normal individual Q95.0 Partial trisomy Q92.2 Chromosome inversion in normal individual Q95.1 Duplications with other complex rearrangements Q92.5 Balanced autosomal rearrangement in abnormal individual Q95.2 Marker chromosomes in normal individual Q92.61 Marker chromosomes in abnormal individual Q92.62 Triploidy and polyploidy Q92.7 Other specified trisomies and partial trisomies of autosomes Trisomy and partial trisomy of autosomes, unspecified Q92.8 Q92.9 Balanced sex/autosomal rearrangement in abnormal individual Q95.3 Individul with autosomal fragile site Q95.5 Other balanced rearrangements and structural markers Balanced rearrangement and structural marker, unspecified Q95.8 Q95.9 Karyotype 45, X Q96.0 Whole chromosome monosomy, nonmosaicism (meiotic Q93.0 Karyotype 46, X iso (Xq) Q AAPC. All rights reserved. UnitedHealthcare 7

11 Congenital Malformations Module 14 Karyotype 46, X with abnormal sex chromosome, except iso (Xq) Q96.2 Mosaicism, 45, X/46, XX or XY Q96.3 Mosaicism, 45, X/other cell line(s) with ab-normal sex chromosome Q96.4 Other variants of Turner s syndrome Q96.8 Turner s syndrome, unspecified Q96.9 Sources Comprehensive Medical Terminology (Fourth Edition) by Betty Davis Jones. Stedman s Medical Dictionary, 28th edition Bates Pocket Guide to Physical Examination and History Taking, Third Edition (Lynn S. Bickley-Lippincott) 8 Anatomy and Pathophysiology for ICD-10 UnitedHealthcare 2013 AAPC. All rights reserved.