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Anatomy and
Pathophysiology
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ICD-10
2014
Module 14
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ICD-10 Experts
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VP, ICD-10 Training and Education
Shelly Cronin, CPC, CPMA, CPC-I, CANPC, CGSC, CGIC, CPPM
Director, ICD-10 Training
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Director, ICD-10 Development and Training
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Director, ICD-10 Development and Training
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Director, ICD-10 Development and Training
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Contents
Module 14
Congenital Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Terminology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Structure and Function . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2
Diseases and Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2
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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.
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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
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Congenital Malformations
Module 14
those in which a specific body part is missing or formed
incorrectly due to a problem within the body itself.
chromosomes do not survive causing a miscarriage very
early on in the pregnancy.
Structure and Function
Diseases and Disorders
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.
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
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.
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Anatomy and Pathophysiology for ICD-10
No cleft palate
No cleft palate
Unilateral cleft lip
and cleft palate
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
Cleft lip with
cleft alveolar
ridge
Alveolar ridge
Cleft palate
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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.
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Module 14
Congenital Malformations
Spina Bifida
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
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
Unspecified cleft palate with unilateral
cleft lip
Q37.9
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.
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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 andRepair
nerves;
however, in
63700,
63702,63704,63706
of meningocele
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
Superior view schematic
Meningocele
Dura
mater
Spinal
cord
Vertebral
body
Report 63700
if less than
5 cm;
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report 63702 if greater than 5 cm
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 Q05.
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Congenital Malformations
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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.
Atrial
septal
defect
Aortic
stenosis
Patent ductus
arteriosus
Transposition
of the
great vessels
Ventricular
septal
defect
Pulmonary
stenosis
Tetralogy
of
Fallot
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Anatomy and Pathophysiology for ICD-10
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
Isomerism of atrial appendages
Q20.6
Other congenital malformations of
cardiac chambers and connections
Q20.8
Congenital malformation of cardiac
chambers and connections, unspecified
Q20.9
Ventricular septal defect
Q21.0
Atrial septal defect
Q21.1
Arterioventricular septal defect
Q21.2
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Module 14
Congenital Malformations
Tetralogy of Fallot
Q21.3
Aortopulmonary septal defect
Q21.4
Other congenital malformations of
cardiac septa
Q21.8
Congenital malformations of cardiac
septum, unspecified
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
Q22.8
Congenital malformation of tricuspid
valve, unspecified
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.”
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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.
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Congenital Malformations
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There are three different types of Down syndrome:
46 chromosomes. The carrier will not exhibit any of the
symptoms of Down syndrome because they have the
correct amount of genetic material.
• 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
6
Anatomy and Pathophysiology for ICD-10
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
nondisjunction)
Q90.0
Trisomy 21, mosiacism (mitotic
nondisjunction)
Q90.1
Trisomy 21, translocation
Q90.2
Down syndrome, unspecified
Q90.9
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Module 14
Congenital Malformations
Trisomy 18, nonmosiacism (meiotic
nondisjunction)
Q91.0
Whole chromosome monosomy, mosaicism
(mitotic nondisjunction)
Q93.1
Trisomy 18, mosiacism (mitotic
nondisjunction)
Q91.1
Chromosome replaced with ring, dicentric
or isochromosome
Q93.2
Trisomy 18, translocation
Q91.2
Deletion of short arm of chromosome 4
Q93.3
Trisomy 18, unspecified
Q91.3
Deletion of short arm of chromosome 5
Q93.4
Trisomy 13, nonmosiacism (meiotic
nondisjunction)
Q91.4
Other deletions of part of a chromosome
Q93.5
Trisomy 13, mosiacism (mitotic
nondisjunction)
Q91.5
Deletions with other complex
rearrangements
Q93.7
Trisomy 13, translocation
Q91.6
Velo-cardio-facial syndrome
Q93.81
Trisomy 13, unspecified
Q91.7
Other microdeletions
Q93.88
Whole chromosome trisomy, nonmosiacism
(meiotic nondisjunction)
Q92.0
Other deletions from the autosomes
Q93.89
Deletion from autosomes, unspecified
Q93.9
Whole chromosome trisomy, mosiacism
(mitotic nondisjunction)
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
Q95.3
Marker chromosomes in abnormal
individual
Q92.62
Balanced sex/autosomal rearrangement in
abnormal individual
Individul with autosomal fragile site
Q95.5
Triploidy and polyploidy
Q92.7
Q95.8
Other specified trisomies and partial trisomies of autosomes
Q92.8
Other balanced rearrangements and structural markers
Q95.9
Trisomy and partial trisomy of autosomes,
unspecified
Q92.9
Balanced rearrangement and structural
marker, unspecified
Karyotype 45, X
Q96.0
Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction)
Q93.0
Karyotype 46, X iso (Xq)
Q96.1
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Congenital Malformations
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Karyotype 46, X with abnormal sex chromo- Q96.2
some, except iso (Xq)
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)
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Anatomy and Pathophysiology for ICD-10
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