BD STEPS Birth Defects Case Definitions
2. Anophthalmia/microphthalmia 4
4-7. Conotruncal Heart Defects 6
8-10. Obstructive Heart Defect 8
11. Anomalous Pulmonary Venous Return 10
14. Esophageal Atresia +/- TE Fistula 13
15. Limb Deficiency, Transverse 14
BD STEPS Birth Defects Case Definitions
BIRTH DEFECT & DEFINITION
SPINA BIFIDA--herniation of the meninges and/or spinal cord tissue through a bony defect of spine closure
OTHER NAMES: spina bifida cystica, spina bifida aperta, myeloschisis, myelodysplasia, etc.
TYPES & DEFINITIONS
MENINGOMYELOCELE/MYELOMENINGOCELE--90% of lesions, herniation of meninges and spinal cord tissue
MENINGOCELE--herniation of meninges without spinal cord tissue
RACHISCHISIS--spine defect without meninges covering the neural tissue
LIPOMENINGOMYELOCELE/LIPOMENINGOCELE--lipomatous (fatty) tissue associated with a bony defect of the spine and herniation of meninges or spinal cord tissue, usually closed and located in the lumbosacral region
MYELOCYSTOCELE--cystic lesion of the spinal cord central canal and herniation through a spinal defect
OPEN LESION--neural tissue open to environment or covered by membrane only (90% of lesions)
CLOSED LESION--neural tissue covered by normal skin
LEVEL OF LESION--highest and lowest vertebrae--cervical (C), thoracic (T), lumbar (L), sacral (S)
INCLUSIONS
All cases including those cases prenatally diagnosed that do not have a postnatal examination to confirm the defect
EXCLUSIONS
Spina bifida occulta
Primary tethered cord
Syringomyelia (hydromyelia)
Diastematomyelia
Diplomyelia
Caudal lipomatous lesions not documented to involve neural tissue
Iniencephaly--a rare neural tube defect involving the occiput and inion, resulting in extreme retroflexion of the head variably combined with occipital encephalocele or rachischisis of the cervical and thoracic spine; iniencephaly always has a closed cranium;
ICD-9-CM CODES
SPINA BIFIDA WITH HYDROCEPHALUS--741.0
SPINA BIFIDA WITHOUT MENTION OF HYDROCEPHALUS--741.9
BDSTEPS CODES
741x0x: Meningomyelocele/myelomeningocele
741x1x: Meningocele
741x2x: Myelocele
741x3x: Myelocystocele
741x4x: Lipomeningomyelocele
741x5x: Lipomeningocele
741x6x: Rachischisis
741x8x: Other specified spina bifida
741x9x: Unspecified spina bifida
7410xx: Arnold Chiari malformation ± hydrocephalus, open lesion
7411xx: Arnold Chiari malformation ± hydrocephalus, closed lesion
7412xx: Arnold Chiari malformation ± hydrocephalus, unspecified open/closed lesion
7413xx: Hydrocephalus, other (aqueduct of Sylvius) or NOS, open lesion
7414xx: Hydrocephalus, other (aqueduct of Sylvius) or NOS, closed lesion
7415xx: Hydrocephalus, other (aqueduct of Sylvius) or NOS, unspecified open/closed lesion
7417xx: No mention hydrocephalus, open lesion
7418xx: No mention hydrocephalus, closed lesion
7419xx: No mention hydrocephalus, unspecified open/closed lesion
741xx1: Highest level, cervical
741xx2: Highest level, thoracic
741xx3: Highest level, lumbar
741xx4: Highest level, sacral
741xx9: Highest level, unspecified
BIRTH DEFECT & DEFINITION
ANOPHTHALMIA--total absence of the eye tissue or apparent absence of the globe in an orbit that otherwise contains normal adnexal structures
MICROPHTHALMIA--reduction in the volume of the eye, usually characterized by corneal diameter less than 10 mm or anteroposterior globe diameter less than 20 mm
NOTE: these conditions may be seen with the ending "ia", "os" or "us"
TYPES & DEFINITIONS
TRUE OR PRIMARY ANOPHTHALMIA--as above; occurs when there is complete failure of formation of the primary optic vesicle, usually bilateral; when unilateral, may have contralateral microphthalmia; verified only when histologic/microscopic exam shows that all ocular tissue is absent
MICROPHTHALMIA--categories: colobomatous (uveal, iris, choroid and/or optic nerve) or noncolobomatous
OTHER NAMES: nanophthalmia = microphthalmic eye with normal intraocular structures and is a distinct genetic malformation
INCLUSIONS
All cases must include diagnosis by an ophthalmologist or confirmation by surgical pathology or autopsy
EXCLUSIONS
“Small eyes" or "small palpebral fissures" unless there is confirmation of anophthalmia or microphthalmia
Isolated microcornea with normal ocular size
Ocular colobomas without anophthalmia or microphthalmia
Cryptophthalmos
ICD-9-CM CODES
ANOPHTHALMIA--743.00
MICROPHTHALMIA--743.10-743.12
BDSTEPS CODES
743000-4: Anophthalmos
743100-4: Microphthalmos
BIRTH DEFECT & DEFINITION
ANOTIA--total absence of the external ear and canal
MICROTIA--malformation or hypoplasia of the auricle, ranging from measurably small external ear with minimal structural abnormality, to an ear with major structural alteration with absent or blind-ending canal
TYPES & DEFINITIONS
Microtia Classification System of Meurman (modified from Marks):
TYPE I--generally small ear that retains most of the overall structure of the normal auricle--similar to lop/ cup defect, auditory meatus is usually patent and defects of the ossicular chain are infrequent
TYPE II--moderately severe anomaly with longitudinal mass of cartilage with some resemblance to pinna (rudimentary auricle will be hook-shaped, have an S-shape or question mark appearance)
TYPE III--ear is a rudiment of soft tissue and the auricle has no resemblance to the normal pinna
TYPE IV--complete absence of all external ear structures, anotia
NOTE: types I - III will occasionally be accompanied by a preauricular tag(s)
INCLUSIONS
Standard
EXCLUSIONS
Small ears NOS or small ears that retain most of the normal structure
Type I microtia with or without abnormality of the external auditory canal
Isolated atresia or stenosis of the external auditory canal
Normal ears that are misplaced: low set, posteriorly rotated, etc.
“Decreased cartilage” reported as part of the estimate of gestational age
ICD-9-CM CODES
ANOTIA--744.01
MICROTIA--744.23
NOTE: absence of the ear, congenital is included in the "other" code--744.09
BDSTEPS CODES
744010-4: Anotia
744210-4: Microtia
The BDSTEPS definitions of dTGA and TOF is NOT exactly comparable to the NBDPS definitions of dTGA and TOF. DORV, which can be a sub-type of dTGA or TOF, is excluded from BD-STEPS altogether. However, the NBDPS cases of DORV-dTGA and DORV-TOF could be identified and excluded from the NBDPS dTGA and TOF case groups if analysts wanted to combine dTGA or TOF data from both studies.
BIRTH DEFECT & DEFINITION
CONOTRUNCAL HEART DEFECTS (outflow tract anomalies)--anomalies of the outflow tract of the heart
TYPES & DEFINITIONS
TRUNCUS ARTERIOSUS (TA)--single common arterial trunk instead of separate pulmonary artery and aorta, almost always associated with a malalignment-type VSD; there are subtypes 1, 2, 3 based on the pattern of truncal branching; no need to specify type
DEXTRO-TRANSPOSITION OF GREAT ARTERIES (DTGA, DTGV)--transposed great arteries such that the pulmonary artery arises from the left ventricle and the aorta arises from the right ventricle
May be isolated or with other congenital heart defects (e.g., VSD, pulmonic stenosis)
If occurs with a VSD, do not code the VSD separately; use the code dTGA-VSD (745110)
If no VSD, use code for dTGA with intact ventricular septum (745100)
TETRALOGY OF FALLOT (TOF, TET)--tetralogy = a malalignment-type VSD creates subvalvar pulmonic stenosis, overriding of the aorta, and right ventricular hypertrophy (= 4 defects in one code)
Do not code VSD and pulmonic stenosis separately
Absent and atretic pulmonary valve are distinctly different defects; thus, careful attention should be paid to the description and coding; use TOF code 745200 and PV insufficiency code 746020 for TOF with absent pulmonary valve
"Pentalogy of Fallot" (TOF + ASD2) is an archaic term. If noted in the medical record, code both defects separately (TOF and ASD).
PULMONARY ATRESIA--atresia of the pulmonary valve/artery; depending on subtype, is considered either in conotruncal defects (7a) or with obstructive defects (7b, 7c)
7a. PULMONARY ATRESIA WITH VSD (PA/VSD, TETRALOGY WITH PULMONARY ATRESIA)--absent connection from the right ventricle to the pulmonary artery and the aorta, usually with malalignment-type VSD; BDSTEPS code is 747310; alternative archaic terms are Truncus, type 4 or pseudotruncus. This is included as a conotruncal defect.
INCLUSIONS
Standard
Include infants who are NEGATIVE or NOT TESTED for 22q11.2 deletion
EXCLUSIONS
Exclude infants who are POSITIVE for 22q11.2 deletion
ICD-9-CM CODES
TETRALOGY OF FALLOT--745.2
PULMONARY ATRESIA WITH VSD, TETRALOGY OF FALLOT WITH PULMONARY ATRESIA--747.3 and 745.2
TRUNCUS ARTERIOSUS--745.0
DEXTRO-TRANSPOSITION OF GREAT ARTERIES--745.10
BDSTEPS CODES
745000: Truncus arteriosus (TA)
745100: Dextro-transposition of great arteries with intact ventricular septum (D-TGA/D-TGV w/ IVS)
745110: Dextro-transposition of great arteries with ventricular septal defect (D-TGA/D-TGV w/ VSD)
745200: Tetralogy of Fallot (TOF)
747310: Pulmonary atresia with VSD (tetralogy of Fallot with pulmonary atresia) (PA w/ VSD)
BIRTH DEFECT & DEFINITION
OBSTRUCTIVE HEART DEFECTS--broad group of congenital heart defects in which there is obstruction to the flow of blood through either the left or right side of the heart or the great vessels
TYPES & DEFINITIONS
Right-Sided Obstructive Anomaly:
TRICUSPID ATRESIA (, TriAtresia, TrA)--atretic connection between the right atrium and the right ventricle, due to the absence or non-patency of the valve
Be sure to code using the BDSTEPS tricuspid atresia code (746100) for atresia alone (not for stenosis)
Tricuspid stenosis is not a BDSTEPS-eligible defect; in the original ICD9-BPA system, one code (7461) lumped both atresia and stenosis, which was a cause for confusion; in the presence of other eligible codes, use 746880 (“CHD, OS”) for tricuspid stenosis
PULMONARY ATRESIA --atresia of the pulmonary valve/artery; depending on subtype, is considered either in conotruncal defects (7a) or with obstructive defects (7b, 7c)
7b. PULMONARY ATRESIA WITH VSD (NOT TOF VARIANT)--use this code (746030) if PA/VSD is present, but anatomic details of the VSD/aorta are not described as "membranous/malalignment-type," or if the VSD is "muscular". This is included as a right-sided obstructive defect.
7c. PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM (PA/IVS)--this is a distinctly different defect; code as 746000. This is included as a right-sided obstructive defect.
Left-Sided Obstructive Anomaly:
COARCTATION OF THE AORTA (COA)--narrowing of the descending aorta, distal to the left subclavian; in most instances, the narrowing occurs close to the region where the ductus arteriosus inserts and is called juxtaductal coarctation
Code separately, even in the presence of hypoplastic left heart syndrome
There are no exclusions based on severity (even a ‘mild’ coarctation is included), although it is helpful to include information about the severity (gradient) or type (ledge vs. long segment coarctation) of the lesion
HYPOPLASTIC LEFT HEART SYNDROME (HLHS)--extreme smallness of the left-sided heart structures (mitral valve and left ventricle) and aorta (including the aortic valve, ascending aorta, arch, and sometimes descending aorta [coarctation]); implies normally related great arteries
Typical cases include mitral hypoplasia or atresia PLUS aortic hypoplasia or atresia, in the presence of a diminutive (non-apex forming) left ventricle
In the typical case of HLHS, coarctation should be coded separately when present; mitral and aortic atresia or hypoplasia do not need separate coding if HLHS is coded
In the presence of an unbalanced AV canal with right dominance, in which the left ventricle and aorta may be small, code the individual anomalies, but do not use the HLHS code
A ventricular septal defect may be present and its size may influence the dimensions of the left ventricle (mitral atresia and intact septum are often associated with very small ventricle)
INCLUSIONS
Standard
EXCLUSIONS
Coarctation of the aorta cases that are prenatally diagnosed but lack postnatal confirmation are excluded
ICD-9-CM CODES
COARCTATION OF THE AORTA--747.10
HYPOPLASTIC LEFT HEART SYNDROME--746.7
PULMONARY VALVE ATRESIA WITH INTACT VENTRICULAR SEPTUM--746.00
TRICUSPID ATRESIA--746.1
BDSTEPS CODES
747100: Coarctation of the aorta, preductal (proximal)
747110: Coarctation of the aorta, postductal (distal)
747120: Coarctation of the aorta, juxtaductal
747190: Coarctation of the aorta, NOS
746700: Hypoplastic left heart syndrome (HLHS)
746000: Pulmonary valve atresia/intact ventricular septum (PA/IVS)
746030: Pulmonary valve atresia with VSD (not tetralogy of Fallot variant) (PA w/ VSD, not TOF)
746100: Tricuspid atresia (TrA)
BIRTH DEFECT & DEFINITION
ANOMALOUS PULMONARY VENOUS RETURN (CONNECTION/DRAINAGE)--a condition in which a pulmonary vein or combination of pulmonary veins drains anomalously into the systemic venous circulation to the right heart or the body instead of into the left heart; often occurs with other cardiac defects
TYPES & DEFINITIONS
TOTAL ANOMALOUS PULMONARY VENOUS RETURN (CONNECTION/DRAINAGE)
(TAPVR/TAPVC/TAPVD)--failure of all pulmonary veins to connect to the left atrium
NOTE: pulmonary blood returns to the heart via supra-diaphragmatic or infra-diaphragmatic routes; these details are not needed for coding purposes
PARTIAL ANOMALOUS PULMONARY VENOUS RETURN (CONNECTION/DRAINAGE)
(PAPVR/PAPVC/PAPVD)--failure of 1,2,or 3 of the 4 pulmonary veins to connect to the left atrium; often associated with a sinus venosus type ASD
INCLUSIONS
Standard
EXCLUSIONS
Cases prenatally diagnosed that do not have a postnatal diagnostic examination to confirm the diagnosis
ICD-9-CM CODES
TOTAL ANOMALOUS PULMONARY VENOUS RETURN--747.41
PARTIAL ANOMALOUS PULMONARY VENOUS RETURN--747.42
BDSTEPS CODES
747420: Total anomalous pulmonary venous return/connection/drainage (TAPVR)
747430: Partial anomalous pulmonary venous return/connection/drainage (PAPVR)
BIRTH DEFECT & DEFINITION
CLEFT LIP +/- PALATE--incomplete closure of the lip; often accompanied by a maxillary alveolar (gum) defect and/or cleft palate ; maxillary alveolar defect may be a complete cleft that is continuous with the cleft palate, or it may be limited to a notch on the gum; cleft lip may be unilateral, bilateral, or median (distinguished from bilateral cleft lip by agenesis of premaxilla)
TYPES & DEFINITIONS
COMPLETE CLEFT LIP--defect extends through the entirety of the lip and the nasal floor; may be unilateral or bilateral; usually associated with a more severe nasal deformation
INCOMPLETE CLEFT LIP--defect of lip that does not extend into the nasal floor; may be unilateral or bilateral; there may be an incomplete cleft lip on one side and a complete cleft lip on the other side
PSEUDOCLEFT LIP (excluded from BDSTEPS)--abnormal linear thickening or depressed groove of skin, or subtle scar-like pigmentary difference paralleling the philtral ridge on the affected side; may be associated with slight notch of the vermillion or a mild slouching of the alar cartilage
INCLUSIONS
Standard
If cleft palate is associated with any type of cleft lip, it is coded as a cleft lip and palate, not cleft palate
EXCLUSIONS
Pseudocleft lip; microform cleft lip; forme fruste cleft lip
Tessier type facial clefts
Oblique facial clefts
Prenatal diagnosis without postnatal confirmation of the defect(s)
ICD-9-CM CODES
CLEFT LIP--749.10-749.14
CLEFT LIP WITH PALATE--749.20-749.25
BDSTEPS CODES
749101-3: Cleft lip, unilateral
749110: Cleft lip, bilateral
749120: Cleft lip, central
749495: Cleft lip, NOS
749201-3: Cleft lip and palate, unilateral
749210: Cleft lip and palate, bilateral cleft lip
749220: Cleft lip and palate, central cleft lip
749290: Cleft lip and palate, NOS
BIRTH DEFECT & DEFINITION
CLEFT PALATE--hole in roof of the mouth; incomplete fusion of the palatal shelves; may be limited to soft palate or also extend onto hard palate; if cleft palate is associated with cleft lip, it is coded as a cleft lip and palate
TYPES & DEFINITIONS
PIERRE ROBIN ANOMALY (SEQUENCE)--combination of micrognathia, cleft palate, glossoptosis (tongue falls back into pharynx)
SUBMUCOUS CLEFT PALATE (excluded from BDSTEPS)--defect of the soft palate with mucosa or a reduced, thin muscle layer bridging the midline; difficult to diagnose clinically in 1st year; often associated with a bifid uvula
INCLUSIONS
Standard
EXCLUSIONS
Submucous cleft palate
Bifid or cleft uvula without overt cleft palate
ICD-9-CM CODES
CLEFT PALATE--749.00-749.04
BDSTEPS CODES
749001-3: Cleft hard palate, unilateral
749010: Cleft hard palate, bilateral
749020: Cleft hard palate, central
749030: Cleft hard palate, NOS
749041-3: Cleft soft palate, unilateral
749050: Cleft soft palate, bilateral
749060: Cleft soft palate, central
749070: Cleft soft palate, NOS
749090: Cleft palate, NOS
BIRTH DEFECT & DEFINITION
ESOPHAGEAL ATRESIA +/- TRACHEOESOPHAGEAL FISTULA (T-E FISTULA, TEF)--congenital complete discontinuity of the lumen of the esophagus resulting in a blind esophageal pouch occurring with or without an abnormal communication between the esophagus and trachea
TYPES & DEFINITIONS
There are several classification schemas
In 90% of cases the upper esophagus ends in a blind pouch and the lower segment forms a fistula with the trachea
INCLUSIONS
Standard
EXCLUSIONS
TE fistula without esophageal atresia
Esophageal stenosis
Trachea atresia
Tracheoesophageal cleft
ICD-9-CM CODES
ESOPHAGEAL ATRESIA, TRACHEOESOPHAGEAL FISTULA--750.3
BDSTEPS CODES
750300: Esophageal atresia without TE fistula
750310: Esophageal atresia with TE fistula
BIRTH DEFECT & DEFINITION
TRANSVERSE LIMB DEFICIENCY--complete or partial absence of distal structures of a limb in a transverse plane at the point where the deficiency begins with proximal structures essentially intact
OTHER NAMES: congenital amputation
TYPES & DEFINITIONS
AMELIA--complete absence of a limb
HEMI- OR MEROMELIA--partial absence of a limb (rather nonspecific; can also be used for longitudinal defects)
TRANSVERSE TERMINAL DEFICIENCY--absence of distal structures with proximal structures essentially intact (used for deficiencies below the elbow)
APHALANGIA--absence of phalanges
ADACTYLY--absence of digits
OLIGODACTYLY--fewer than 5 digits
ACHEIRIA--absence of a hand
INCLUSIONS
Standard
Isolated missing digits, except isolated missing thumb (would be longitudinal limb deficiency)
EXCLUSIONS
Unspecified limb deficiency
Generalized limb shortening including chondrodysplasias
Nail hypoplasia
Brachydactylies type A-E
Lower extremity deficiencies with sirenomelia sequence
ICD-9-CM CODES
UPPER LIMB TRANSVERSE DEFICIENCY--755.21
UPPER LIMB LONGITUDINAL DEFICIENCY OF PHALANGE(S)--755.29
LOWER LIMB TRANSVERSE DEFICIENCY--755.31
LOWER LIMB LONGITUDINAL DEFICIENCY OF PHALANGE(S)--755.39
BDSTEPS CODES
755200-4: Transverse deficiency or amputation of the arm, NOS
755205-9: Total absence of the arm
755240-4: Absence of the forearm and hand
755245-9: Absence of the hand or fingers
755300-4: Transverse deficiency or amputation of the leg, NOS
755305-9: Total absence of the leg
755340-4: Absence of the lower leg and foot
755345-9: Absence of foot or toes
BIRTH DEFECT & DEFINITION
DIAPHRAGMATIC DEFECTS (HERNIA)--incomplete formation of the diaphragm through which some portion of the abdominal contents herniates into the thoracic cavity
OTHER NAMES: congenital diaphragmatic hernia (CDH), absence, agenesis, or aplasia of diaphragm, hemidiaphragm
TYPES & DEFINITIONS
POSTEROLATERAL HERNIA = BOCHDALEK HERNIA--defect involving the posterior and/or lateral portions of the diaphragm
AGENESIS--apparent absence of an entire side of diaphragm; represents a large Bochdalek hernia
ANTERIOR HERNIA = MORGAGNI HERNIA (aka Retrosternal, Parasternal, Morgagni-Larrey hernia
LARGE ANTERIOR HERNIA = SEPTUM TRANSVERSUM HERNIA--type of defect found in Pentalogy of Cantrell
PARAESOPHAGEAL HERNIA--defect in the diaphragm surrounding the esophagus
OTHER--includes, for example, central diaphragm defects, anterolateral defects, and unusual/atypical defects
HERNIA SAC--approximately 15% of CDH have a sac, which is a localized thinning or out-pouching of the diaphragm; a sac is not a type of hernia
INCLUSIONS
Standard
Prenatally diagnosed cases should be included only if bowel was documented in the chest by prenatal ultrasound
EXCLUSIONS
Eventration of the diaphragm--not a true herniation, but an upward displacement of abdominal contents into an out-pouched diaphragm resulting from weakness or absence of diaphragmatic musculature
Hiatal hernia
CCAM (cystic adenomatoid malformation of the lung)
ICD-9-CM CODES
DIAPHRAGMATIC HERNIA--756.6
BDSTEPS CODES
756600-4: Diaphragmatic hernia, NOS
756605: Diaphragmatic hernia, esophageal
756610-4: Diaphragmatic hernia, Bochdalek
756615-9: Diaphragmatic hernia, Morgagni
BIRTH DEFECT & DEFINITION
GASTROSCHISIS--congenital fissure of the anterior abdominal wall, lateral to the umbilicus, usually to the right, with a small bridge of skin separating the defect from the umbilicus; accompanied by herniation of the small, and part of the large, intestines, and occasionally other abdominal organs, into the amniotic cavity, and lacking a protective membrane
TYPES & DEFINITIONS
LIMB-BODY WALL COMPLEX--disruption complex involving lateral body wall defect, limb reduction defect, neural tube defects, heart and other anomalies
INCLUSIONS
Standard
Prenatally diagnosed cases if high resolution ultrasound was done and the umbilicus was visualized
EXCLUSIONS
Standard
ICD-9-CM CODES
GASTROSCHISIS--756.79
BDSTEPS CODES
756710: Gastroschisis
| File Type | application/vnd.openxmlformats-officedocument.wordprocessingml.document |
| Author | Burke, Amanda P. (CDC/CGH/DPDM) (CTR) |
| File Modified | 0000-00-00 |
| File Created | 2021-01-28 |