STUDY - Technical - New Dacian's Medicine
Congenital Malformations, Deformities
and Chromosomal Abnormalities
Translation Draft
In this material you have
at your disposal only a simple list of diseases belonging to
this "group" of diseases (with minimum details necessary for
correct identification/catalogue), as it is present in the
"Table Lists of Diseases" published by accredited public
institutions.
In Romania this list is published by the "National Center for the Organization and Assurance of the Information and Information System in the Field of Health" being taken from the "International and Statistical Classification of Diseases and Related Health Problems"...
In Romania this list is published by the "National Center for the Organization and Assurance of the Information and Information System in the Field of Health" being taken from the "International and Statistical Classification of Diseases and Related Health Problems"...
MEDICAL GENETICS - CONGENITAL MALFORMATIONS, DEFORMITIES AND CHROMOSOMAL ABNORMALITIES.
Excludes hereditary
metabolism disorders
A. Congenital
malformations of the nervous system:
1. Anencephaly and similar
malformations – Anencephaly: Unspecified anencephaly – excludes
hydranencephaly, incomplete anencephaly (Hemianencephaly,
Hemichalalia), Other anencephaly (Acephaly, Acrania,
Anencephalomyelia, Complete Anencephaly), Cranio-rahishisis:
Rahishisis: complete, craniospinal, total; Acephaly: Unspecified
acephaly, Open Acephaly, Closed Acephaly;
2. Encephalocele –
includes encephalomyelocele, hydroencephalocele, cranial
hydromeningocele, cerebral meningocele, meningo-encephalocele
and excludes Meckel-Gruber syndrome – frontal encephalocele;
Naso-frontal encephalocele; Occipital encephalocele;
Encephalocele with other localizations: Parietal Encephalocele,
Orbital Encephalocel, Nasal Encephalocel, Nasopharyngeal
Encephalocel, Encephalocele of other specified localizations,
Unspecified Encephalocele;
3. Microcephaly –
Hydromicrocephaly; Microencephalus – excludes Meckel-Gruber
syndrome, microencephalus with cystic kidney disease,
microencephaly due to: congenital infection, exposure to
ionizing radiation;
4. Congenital
hydrocephalus – includes hydrocephalus in the newborn and
excludes Arnold-Chiari syndrome, hydrocephalus: acquired, due to
congenital toxoplasmosis, with spina bifida – Malformations of
the Aqueduct Sylvius: anomaly, congenital obstruction, stenosis;
Atresia of the Luschka fissure and the Magendie foramen:
Dandy-Walker syndrome; Other congenital hydrocephalus;
Unspecified congenital hydrocephalus;
5. Other congenital
malformations of the brain – excludes cyclopia, macrocephaly –
congenital malformations of the calos body; Congenital
malformations of the body calos unspecified; Agenesis of the
calos body; Other congenital malformations of the calos body;
Arhinencephaly; Holoprosencephaly; Other partial deformities of
the brain – excludes congenital malformations of the calos body;
Partial brain abnormalities; Partial abnormalities of the
hypothalamus; Partial abnormalities of the cerebellum; Agiria
and lissencephaly; Microgiria and pahigiria: Micropoligiria,
Poligiria; Hydranencephaly – excludes with spina bifida; Other
brain reduction abnormalities: Partial absence of the NOS brain,
partial agenesis of the NOS brain, Partial aplasia of the NOS
brain, partial hypoplasia of the NOS brain; Dysplasia of septum
and optical pathways; Megalencephaly; Congenital cerebral cyst –
excludes acquired porencephalic cyst; Unspecified congenital
cerebral cyst: Porencephaly NOS, Schizencephalia NOS; Unique
congenital brain cyst; Multiple congenital brain cysts; Other
specified congenital malformations of the brain: Congenital:
hematocephalus, malformation of the cerebral meninges,
Macrogiria, Brain in the form of walnut; Congenital malformation
of the unspecified brain: Congenital(s): NOS anomaly of the
brain, NOS deformity of the brain, NOS brain disease or lesion,
multiple NOS abnormalities of the brain;
6. Spina bifida – includes
hydromeningocel (spinal), meningocel (spinal)m, meningomyelocel,
myelocel, myelomeningocel, spina bifida (open) (cystic), spinal
rahishishisis, syringomyelocele and excludes Arnold-Chiari
syndrome, rahischisis: complete, cranio-spinal, total, Spina
bifida occult – additional diagnosis is used to show the type of
spina bifida: 0. Unspecified if the lesion is open or closed, 1.
Open, not covered with skin or membrane, 2. Closed, cystic,
covered with skin or membrane – Cervical spina bifida with
hydrocephalus; Thoracic spina bifida with hydrocephalus: Spina
bifida: dorsal with hydrocephalus, dorso-lumbar with
hydrocephalus, thoraco-lumbar with hydrocephalus; Spina lumbar
bifida with hydrocephalus: Spina bifida lombo-sacral with
hydrocephalus; Spina bifida sacral with hydrocephalus; Spina
bifida unspecified with hydrocephalus; Cervical spina bifida
without hydrocephalus; Thoracic spina bifida without
hydrocephalus: Spina bifida: dorsal NOS, dorso-lumbar NOS,
thoraco-lumbar NOS; Spine lumbar bifida without hydrocephalus:
Spina bifida lumbaro-sacral NOS; Spina bifida sacral without
hydrocephalus; Spina bifida unspecified: Spina bifida
unspecified without hydrocephalus;
7. Other congenital
malformations of the spinal cord – excludes syringomyelia and
syringobulbia – Amyelia; Hypoplasia and spinal cord dysplasia:
Atelomyelia, Myelotelia, Myelodysplasia; Diastematomy; Other
congenital malformations of the horsetail; Hydromyelia:
Hydrorahis; Other specified congenital malformations of the
spinal cord: Congenitally limited spinal cord; Congenital
malformation of the unspecified spinal cord: Congenital: NOS
anomaly of the spinal cord or meninges, NOS deformation of the
spinal cord or meninges, NOS disease or lesion of the spinal
cord or meninges;
8. Other congenital
malformations of the nervous system – excludes familial
dysautonomia (Rilley-Day), neurofibromatosis (nonmalignant) –
Arnold-Chiari syndrome; Other congenital malformations of the
nervous system; Trembling mandible syndrome: Marcus Gunn
syndrome; Hypoplasia of the optic nerve: Congenital optic
atrophy; Other specified congenital malformations of the nervous
system: Agenesis of a nerve, Cayler syndrome, congenital facial
diplegia, displacement of the brachial plexus, nuclear agenesis
– excludes Duane syndrome, Moebius syndrome; Congenital
malformation of the unspecified nervous system: Congenital: NOS
anomaly of the nervous system, NOS deformation of the nervous
system, NOS disease or lesion of the nervous system;
B. Congenital malformations of the eye, ear, face and neck - excludes the labia and the fissure of the palate, congenital malformation of: cervical rahis, larynx, NEC lip, nose, parathyroid gland, thyroid gland:
B. Congenital malformations of the eye, ear, face and neck - excludes the labia and the fissure of the palate, congenital malformation of: cervical rahis, larynx, NEC lip, nose, parathyroid gland, thyroid gland:
1. Congenital
malformations of the eyelid, tear apparatus and orbit – excludes
Cryptothalmia: NOS, syndrome – Congenital ptosis; Congenital
ectropion; Congenital entropion; Other congenital malformations
of the eyelid: Ablefaria, Absence or agenesis: cil, eyelid,
Accessory: eye muscle, eyelid, congenital blepharophymosis,
Eyelid Coloboma, Congenital malformations of the eyelid NOS;
Absence and agenesis of the lacrimal apparatus: Absence of the
tear hole; Congenital stenosis or sclerosis of the lacrimal
canal: Congenital malformations of the lacrimal apparatus:
Congenital malformations of the lacrimal apparatus NOS;
Congenital malformation of the orbit;
2. Anophthalmia,
microphthalmia and macrophthalmia – Cystic eye; Other forms of
anophthalmia: Agenesis of the eye, Aplasia of the eye;
Microphthalmia: Cryptophthalmia NOS, Eye dysplasia, Hypoplasia
of the eye, rudimentary eye – excludes cryptophthalmia syndrome;
Macrophthalmia – excludes macrophthalmia in congenital glaucoma;
3. Congenital
malformations of the lens – congenital cataract; Congenital
luxation of the lens; The coloboma of the lens; Congenital
afachia; Sferofachia; Other congenital malformations of the
lens; Congenital malformation of the unspecified lens;
4. Congenital
malformations of the anterior chamber of the eye – Coloboma
iris: Colobom NOS; Absence of iris: Aniridia; Other congenital
malformations of the iris: Congenital anizocoria, pupil atresia,
Congenital malformation of the NOS iris, Correctopia; Congenital
opacity of the cornea; Other congenital malformations of the
cornea: Congenital malformations of the nos cornea, Microcornea,
Peter Anomaly; Blue sclerotics; Other congenital malformations
of the anterior chamber of the eye: Rieger anomaly; Congenital
malformation of the anterior chamber of the unspecified eye;
5. Congenital
malformations of the posterior chamber of the eye – Congenital
malformations of the vitreous body: Congenital opacity of the
vitreous body; Congenital malformations of the retina:
Congenital retinal aneurysm; Congenital malformations of the
optic papilla: Coloboma of the optic papilla; Congenital
malformations of the choroid; Other congenital malformations of
the posterior chamber of the eye of the eye: Coloboma of the
bottom of the eye; Congenital malformation of the posterior
chamber of the unspecified eye;
6. Other congenital
malformations of the eye – excludes congenital nystagmus, ocular
albinism, retinitis pigmentosa – Congenital glaucoma:
Buphthalmia, Glaucoma of the newborn, Hidrophthalmia, Congenital
Keratoglob with glaucoma, Macrocornea with glaucoma,
Macrophthalmia in congenital glaucoma, Megalocornea with
glaucoma; Other specified congenital malformations of the eye;
Congenital malformation of the unspecified eye: Congenital: NOS
anomaly of the eye, NOS deformation of the eye;
7. Congenital
malformations of the ear causing hearing impairment – excludes
congenital deafness – Congenital absence of the ear pavilion;
Absence, atresia or stricture of the auditory (external)
conduction: Atresia or stricture of the bone auditory meat;
Absence of the Eustache tube; Congenital malformation of the ear
osciors: Coalescence of the ear osciors; Other congenital
malformations of the middle ear: Congenital malformations of the
middle ear NOS; Congenital malformation of the inner ear:
Anomaly: membrane labyrinth, Corti organ; Congenital
malformation of the ear causing unspecified hearing impairment:
Congenital absence of NOS ear;
8. Other congenital
malformations of the ear – excludes preuriular sinus –
Supernumerary flag: Accessory Tragus, Polio, Accessory or
Preuriular End, Supernumerary: ear, lobe; Macrotia; Microtia;
Other ear deformities: Sharp-tipped ear; The position anomaly of
the ear: the low position of the ear – excludes the cervical
flag; Protruding ear: bat-shaped ear; Other specified congenital
malformations of the ear: congenital absence of the lobe or ear;
Congenital malformation of the unspecified ear: congenital
anomaly of the ear NOS;
9. Other congenital
malformations of the face and neck – excludes labial fissure and
palatal fissure, Diseases presented above, Congenital
malformations of the bones of the skull and face, Cyclopia,
Dental abnormalities (including malocclusion), Malformative
syndrome affecting the appearance of the face, Persistence of
the thyrogloss canal – Sinus, fistula and cyst of the gill
fissure: Sinus and preuriicular cyst: Fistula(a): congenital
flag, cervico-aural; Other malformations of the gill fissure:
Malformation of the gill fissure NOS, Cervical pavilion,
Otocephaly; Membraned neck: Pterigium colli; Macrostomy;
Microstomy; Macrocheilia: Congenital lip hypertrophy;
Microcheilia; Other specified congenital malformations of the
face and neck: Median: cyst of the face and neck, fistula of the
face and neck, sinus of the face and neck; Congenital
malformation of the face and neck not specified: NoS congenital
anomaly of the face and neck;
C. Congenital
malformations of the circulatory system:
1. Congenital
malformations of the cavities and cardiac orifices - excludes
Dextrocardia with reverse position, Atrial arrangement with
mirror shape with reverse position - Common arterial trunk:
Persistence of the arterial canal; Double hole of the right
ventricle: Taussig-Bing syndrome; Double hole of the left
ventricle; Discordant ventricular-auricle communication:
Positioning to the right of the aorta, Transposition of large
vessels (complete); Double ventricular orifice: Common
ventricle, bilateral trilocular cord, single ventricle;
Discordant atrioventricular communication: Corrected
transposition, Left transposition, ventricular inversion;
Isomerism of cardiac auricles: Isomerism of caries with asplenia
or polysplenia; Other congenital malformations of the cavities
and cardiac orifices; Congenital malformation of unspecified
cavities and cardiac orifices;
2. Congenital
malformations of the cardiac septum – excludes defect of the
acquired cardiac septum – ventricular septal defect; Atrial
septal defect: Coronary sinus defect, Permeability or
persistence: oval foramen, ostium secondum type 2, venous sinus
defect; Atrioventricular septal defect: Common atrioventricular
canal, Endocardial fold defect, Atrial septal defect of ostium
primum type 1; Tetralogy Fallot: Ventricular septal defect with
pulmonary stenosis or atresia, dextroposition of the aorta and
right ventricular hypertrophy; Aorto-pulmonary septal defect:
Aortic septal defect, aorto-pulmonary fistula; Other congenital
malformations of heart septums: Eisenmenger Syndrome, Pentalogia
Fallot; Congenital malformation of an unspecified cardiac
septum: Septal defect (heart) NOS;
3. Congenital
malformations of the tricuspid and pulmonary valves – atresia of
the pulmonary valve; Congenital stenosis of the pulmonary valve;
Congenital failure of the pulmonary valve: Congenital reflux in
the pulmonary valve; Other congenital malformations of the
pulmonary valve: Congenital malformations of the nos pulmonary
valve; Congenital stenosis of the tricuspid valve: Tricuspid
valve atresia; Ebstein's disease; Hypoplastic right heart
syndrome; Other congenital malformations of the tricuspid valve;
Congenital malformation of the unspecified tricuspid valve;
4. Congenital
malformations of the aortic valve and mitral valve – Congenital
stenosis of the aortic valve: Aortic congenital: atresia,
stenosis – excludes congenital subaortic stenosis, that in
hypoplastic left heart syndrome; Congenital insufficiency of the
aortic valve: tricuspid aortic valve, Congenital aortic
insufficiency; Congenital mitral stenosis: Congenital mitral
atresia; Congenital mitral insufficiency; Hypoplastic left heart
syndrome: Atresia or marked hypoplasia of the aortic orifice or
valve, with hypoplasia of the ascending aorta and defective
development of the left ventricle (with atresia or mitral valve
stenosis); Other congenital malformations of the aortic and
mitral valves; Congenital malformations of unspecified aortic
and mitral valves;
5. Other congenital
malformations of the heart – excludes endocardial fibroelastosis
– Dextrocardia – excludes dextrocardia with reverse position,
isomerism of the secondary part of the atrium (with asplenia or
polysplenia), the mirror image of the atrial arrangement with
reverse position; Levocardia – the placement of the heart on the
left side of the hemitorax with the tip pointing to the left,
but with the reverse position of other viscera and defects of
the heart, or the corrected transposition of large vessels;
Trial cord; Stenosis of the pulmonary clog; Subaortic congenital
stenosis; Malformation of coronary vessels: Congenital aneurysm
of the coronary (artery); Congenital block of the heart; Other
congenital heart defects specified: Congenital: Diverticulum of
the left heart, Malformation of: myocardium, pericardium,
Malposition of the heart, Uhl disease; Unspecified congenital
heart defect: Congenital: NOS anomaly of the heart, NOS disease
of the heart;
6. Congenital
malformations of the large arteries – Permeability of the
arterial canal: Permeability of the Botallo canal, Persistence
of the arterial canal; Coarctation of the aortic isthmus:
Coarctation of the aorta (before the canal) (after the canal);
Atresia of the aorta; Stenosis of the aorta: Supravalvular
stenosis of the aorta – excludes congenital aortic stenosis;
Other congenital malformations of the aorta: Absence of aorta,
Aorta aplasia, Congenital: aortic aneurysm, aorta dilation,
Valsalva sinus aneurysm (rupture), double aortic arch (vascular
ring of the aorta), aortic hypoplasia, Persistence: aortic arc
convolution, right aortic arc – excludes aortic arch in
hypoplastic right heart syndrome; Atresia of the pulmonary
artery; Pulmonary artery stenosis; Other congenital
malformations of the pulmonary artery: Aberrant pulmonary
artery, pulmonary artery agenesis, congenital aneurysm of the
pulmonary artery, pulmonary artery anomaly, pulmonary artery
hypoplasia, pulmonary arteriovenous aneurysm; Other congenital
malformations of large arteries; Congenital malformation of
large unspecified arteries;
7. Congenital
malformations of large veins – Congenital stenosis of the cave
vein: Congenital stenosis of the cave vein (lower) (superior);
Persistence of the upper left cave vein; Total aberrant
pulmonary venous connection; Partial aberrant pulmonary venous
connection; Unspecified aberrant pulmonary venous connection;
Aberrant portal venous connection; Fistula between the porta
vein and the hepatic artery; Other congenital malformations of
large veins: Absence of the cave vein (lower) (upper),
Continuation of the lower cave vein in the azigos vein,
Persistence of the left posterior cardinal vein, Smicitary
syndrome; Congenital malformation of an unspecified large vein:
Anomaly of the cave vein (lower) (upper) NOS;
8. Other congenital
abnormalities of the peripheral vascular system – excludes
abnormalities of: cerebral and precerebral vessels, coronary
vessels, pulmonary artery, congenital retinal aneurysm,
hemangioma and lymphangioma – Congenital absence and hypoplasia
of the umbilical artery: Single umbilical artery; Congenital
stenosis of the renal artery; Other congenital malformations of
the renal artery: Congenital malformations of the renal artery
NOS, multiple renal arteries; Peripheral arteriovenous
malformation: Arteriovenous aneurysm – excludes acquired
arteriovenous aneurysm; Congenital flebectazia; Other congenital
malformations specific to the peripheral vascular system:
aberrant subclaviculal artery, Absence of an NEC artery or vein,
Atresia of an artery or NEC vein; Congenital: aneurysm
(peripheral), artery stricture, varicose veins; Congenital
malformation of the unspecified peripheral vascular system:
Anomaly of an noS artery or vein;
9. Other congenital
malformations of the circulatory system – excludes Congenital
aneurysm: coronary, NOS, peripheral, pulmonary, retinal,
rupture: cerebral arteriovenous malformation, malformation of
the precerebral vessels – arteriovenous malformation of the
precerebral vessels: congenital arteriovenous precerebral
aneurysm (without rupture); Other malformations of the
precerebral vessels: Congenital (a): malformation of the
precerebral vessels NOS, precerebral aneurysm (without rupture);
Other malformations of the cerebral vessels: Congenital:Cerebral
aneurysm (without rupture), Malformation of brain vessels NOS;
Other specified congenital malformations of the circulatory
system: Congenital aneurysm localized NEC; Congenital
malformation of the circulatory system unspecified;
D. Congenital
malformations of the respiratory system:
1. Congenital
malformations of the nose – excludes congenital deviation of the
nasal septum – Atresia of choanes: Atresia of the nostrils
(previous) (posterior), Congenital stenosis of the nostrils
(previous) (posterior); Agenesis and hypoplasia of the nose:
Congenital absence of the nose; Cracked, notched or open nose;
Congenitally perforated nasal septum; Other congenital
malformations of the nose: Accessory nose, Congenital anomaly of
the nasal sinus wall; Congenital malformation of the nose
unspecified;
2. Congenital
malformations of the larynx – excludes congenital laryngeal
stodor – Pterigioma of the larynx: Pterigioma of the larynx:
glotic, NOS, subglotic; Subglotic congenital stenosis;
Hypoplasia of the larynx; Laringocele; Congenital
laryngo-malacia; Other congenital malformations of the larynx:
Absence of cricoid cartilage, epiglottis, glottis, larynx and
thyroid cartilage, Agenesis of cricoid cartilage, epiglottis,
glottis, larynx and thyroid cartilage, atresia of cricoid
cartilage, epiglottis, glottis, larynx and thyroid cartilage,
thyroid cartilage fissure, congenital stenosis of the NEC
larynx, thyroid cartilage fissure, congenital stenosis of the
NEC larynx, epiglottis fissure, posterior fissure of the cricoid
cartilage; Congenital malformation of the unspecified larynx;
3. Congenital
malformations of the trachea and bronchi – excludes congenital
bronchiectasis – congenital tracheomalacia; Other congenital
malformations of the trachea: Anomaly of the tracheal cartilage,
Congenital(a): trachea dilation, trachea malformation, trachea
stenosis, tracheocele; Congenital bronchomalacia; Congenital
stenosis of the bronchi; Other congenital malformations of the
bronchi: Absence of bronchi, Agenesis of the bronchi, Atresia of
the bronchi, NOS congenital malformation of the bronchi,
Diverticulof the bronchi;
4. Congenital
malformations of the lung – congenital cystic pulmon:
Congenital: pulmon in honeycomb, pulmon disease: cystic,
polycystic – excludes disease of acquired or unspecified cystic
pulmon; Accessory lung lobe; Pulmonary sequestration; Pulmonary
agenesis: Absence of lung (lobe); Congenital bronchiectasis;
Intrapulmonary ectopic tissue; Hypoplasia and pulmon dysplasia –
excludes pulmonary hypoplasia associated with short-term
gestation; Other congenital malformations of the pulmon;
Congenital malformation of unspecified pulmon;
5. Other congenital
malformations of the respiratory system – anomalies of the
pleura; Congenital cyst of the mediastinum; Other specified
congenital malformations of the respiratory system: Nasopharynx
atresia; Congenital malformation of the respiratory system
unspecified: Congenital: absence of a respiratory organ, NOS
anomaly of a respiratory organ;
E. Labial fissure and palatine fissure Additional diagnosis is used to identify malformations associated with the nose – excludes Robin syndrome.
E. Labial fissure and palatine fissure Additional diagnosis is used to identify malformations associated with the nose – excludes Robin syndrome.
1. The fissure of the
palace – includes the crack of the palace, palatoschisis and
excludes the fissure of the palace with the labia fissure – the
crack of the palace vault; Crack of the soft part of the palace;
Crack of the vault and the soft part of the palace; Lueta
fissure: Lueta bifida; Crack of the unspecified palace: Crack of
the noS palace;
2. Labial fissure –
includes cheiloschisis, congenital labial fissure, rabbit lip,
rabbit lip and excludes labia lalia fissure with palate fissure
– bilateral labial fissure; Median labial fissure; Unilateral
labia lone fissure: NOS labial fissure;
3. Crack of the palace
with labia fissure – Crack of the palace vault with bilateral
labia fissure; The fissure of the palace vault with unilateral
labia fissure: The crack of the palace vault with noS labia
fissure; Crack of the soft part of the palace with bilateral
labia fissure; Crack of the soft part of the palace with
unilateral labia fissure: Crack of the soft part of the palace
with NOS labia fissure; Crack of the vault and the soft part of
the palace with bilateral labia fissure; Crack of the vault and
the soft part of the palace with unilateral labia fissure: Crack
of the vault and the soft part of the palace with noS labia
fissure; Crack of the unspecified palate with bilateral labial
fissure; Crack of the unspecified palate with unilateral labia
fissure: The fissure of the palate with the noS labia fissure;
G. Other congenital malformations of the digestive system:
G. Other congenital malformations of the digestive system:
1. Other congenital
malformations of the tongue, mouth and pharynx – excludes
macrostomy, microstomy – Congenital malformations of the lips
not elsewhere classified: Congenital: labia fistula, noS lab ial
malformation, Van der Woude syndrome – excludes the labia lonas:
NOS, with the palate crack, Macrocheilia, Microcheilia;
Anchiloglosia: Linked language; Macroglosia; Other congenital
malformations of the language: Aglosia, Bifida language,
Congenitala(s): adhesions of the tongue, fissure of the tongue,
NOS malformation of the language, Hypoglosia, Hypoplasia of the
tongue, Microglosia; Congenital malformations of the salivary
glands and canals: Absence of salivary glands and canals, glands
and salivary ducts accessories, Atresia of salivary glands and
canals, Congenital fistula of salivary glands; Congenital
malformations of the palate not elsewhere classified: Absence of
luette, Congenital malformation of the palace NOS, High arch of
the palate – excludes: crack of the palate: NOS, with labia
fissure; Other congenital malformations of the mouth: Congenital
malformations of the mouth NOS; Pharyngeal bag: Diverticulum of
the pharynx – excludes pharyngeal bag syndrome; Other congenital
malformations of the pharynx: Congenital malformations of the
pharynx NOS;
2. Congenital
malformations of the esophagus – Atresia of the esophagus
without fistula: Atresia of the esophagus NOS; Atresia of the
esophagus with tracheo-esophageal fistula: Atresia of the
esophagus with broncho-esophageal fistula; Atresia of the
esophagus with fistula between the trachea and the upper
esophageal bag; Atresia of the esophagus with fistula between
the trachea and the lower esophageal bag; Atresia of the
esophagus with tracheo-esophageal fistula: Atresia of the
esophagus with tracheo-esophageal fistula NOS; Congenital
tracheo-esophageal fistula without atresia: congenital
tracheo-esophageal fistula without atresia: congenital
tracheo-esophageal fistula NOS, congenital broncho-esophageal
fistula without atresia; Congenital stenosis and stricture of
the esophagus; Pterigioma of the esophagus; Congenital dilation
of the esophagus; Diverticulum of the esophagus: Esophageal bag;
Other congenital malformations of the esophagus; Congenital
duplication of the esophagus; Esophageal dysmotility:
Pseudo-obstruction of the esophagus; Other congenital
malformations of the esophagus: Absent esophagus, congenital
displacement of the esophagus; Congenital malformation of the
esophagus unspecified;
3. Other congenital
malformations of the upper digestive tract – Hypertrophic
congenital stenosis of the pylorus: Congenital or infantile:
narrowing of the pylorus, hypertrophy of the pylorus, spasm of
the pylor, stenosis of the pylorus, sclerosis of the pylor;
Congenital hiatal hernia: Displacement of the cardia along the
esophageal hiatus – excludes congenital diaphragmatic hernia;
Other specified congenital malformations of the stomach:
Congenital: displacement of the stomach, diverticulum of the
stomach, stomach in "hourglass", Deduplication of the stomach,
Megalogastria, Microgastria; Congenital malformation of the
unspecified stomach; Other specified congenital malformations of
the upper digestive tract; Congenital malformation of the upper
digestive tract unspecified: Congenital: NOS anomaly of the
upper digestive tract, NOS deformation of the upper digestive
tract;
4. Congenital absence,
atresia and stenosis of the small intestine – includes
congenital obstruction, occlusion and stricture of the small
intestine or NOS intestine and excludes meconial ileus in cystic
fibrosis – Absence, atresia and congenital stenosis of the
duodenum; Absence, atresia and congenital stenosis of jejun:
"apple peel" syndrome, Jejun imperforation; Absence, atresia and
congenital stenosis of the ileum; Absence, atresia and
congenital stenosis of specified parts of the small intestine;
Absence, atresia and congenital stenosis of the small intestine
unspecified part: Absence, atresia and congenital stenosis of
the intestine NOS;
5. Absence, atresia and
congenital stenosis of the large intestine – includes
obstruction, occlusion and stricture of the large intestine –
Absence, atresia and congenital stenosis of the rectum with
fistula (additional diagnosis is used to identify congenital
rectal fistula if present); Absence, atresia and congenital
stenosis of the rectum with unspecified fistula; Absence,
atresia and congenital stenosis of the rectum with
recto-urethral fistula; Absence, atresia and congenital stenosis
of the rectum with recto-vescal fistula; Absence, atresia and
congenital stenosis of the rectum with rectal-vulvar fistula;
Absence, atresia and congenital stenosis of the rectum with
rectal-cutaneous fistula; Absence, atresia and congenital
stenosis of the rectum with recto-cloacal fistula; Absence,
atresia and congenital stenosis of the rectum with another
fistula; Absence, atresia and congenital stenosis of the rectum
without fistula: Imperforated rectum; Absence, atresia and
congenital stenosis of the anus with fistula; Absence, atresia
and congenital stenosis of the anus with unspecified fistula;
Absence, atresia and congenital stenosis of the anus with
ano-cutaneous fistula; Absence, atresia and congenital stenosis
of the anus with ano-vestibular fistula; Absence, atresia and
congenital stenosis of the anus with another fistula; Absence,
atresia and congenital stenosis of the anus without fistula:
Anus imperforated; Absence, atresia and congenital stenosis of
other parts of the large intestine; Absence, atresia and
congenital stenosis of other parts of the large intestine
unspecified part: Atresia of the colon;
6. Other congenital
malformations of the intestines – Meckel Diverticul: Persistent:
omphalo-mesenteric canal, veal canal; Hirschsprung disease –
Hirschsprung disease not specified: Aganglionosis NOS, Megacolon
(aganglionic) congenital NOS, Hirschsprung's disease of a short,
long segment, Other forms of Hischsprung disease: Total
aganglionosis: of the colon, intestinal, Other congenital
functional disorders of the colon; Congenital malformations of
bowel fixation; Rotation of the colon: Rotation: absence of
check and colon, incomplete check and colon, failure of the
check and colon; Congenital intraabdominal (bride) adhesions:
Congenital adhesions (brides): abnormal, abnormal epiploic,
peritoneal, Bride Ladd; Other congenital malformations of bowel
fixation: Jackson membrane, NOS bowel fixation malformation,
universal mesenter; Bowel duplication; Ectopia of the anus;
Congenital fistula of the rectum and anus – excludes congenital
fistula: recto-vaginal, urethro-rectal, fistula or pylonidal
sinus with absence, atresia and stenosis; Persistence of the
cloaca: Cloaca NOS; Other specified congenital malformations of
the intestine: Congenital:blind ansa syndrome, colon
diverticulitis, intestinal diverticulum, Dolichocolon,
Megaloappendix, Megaloduoden, Microcolon, Transposition:
appendix, colon, intestine; Congenital malformation of the
unspecified intestine;
7. Congenital
malformations of the gallbladder, bile ducts and liver –
Agenesis, aplasia and hypoplasia of the gallbladder: Congenital
absence of the gallbladder; Other congenital malformations of
the gallbladder: Congenital malformations of the gallbladder
NOS, intrahepatic gallbladder; Atresia of the bile ducts;
Congenital stenosis and stricture of the bile ducts; Cyst of the
choledoc; Other congenital malformations of the bile ducts:
Accessory hepatic canal, Congenital malformation of the bile
ducts NOS, Duplication: bile duct, cystic canal; Cystic disease
of the liver; Other congenital malformations of the liver: Liver
accessory, Alagille syndrome, Congenital: absence of liver,
hepatomegalia, liver malformation NOS;
8. Other congenital
malformations of the digestive system – congenital exclusion:
diaphragmatic hernia, hiatal hernia – Agenesis, aplasia and
hypoplasia of the pancreas: Congenital absence of the pancreas;
Ring pancreas; Congenital pancreatic cyst; Other congenital
malformations of the pancreas and pancreatic canal; Ectopia of
the pancreas; Other congenital malformations of the pancreas and
pancreatic canal: Accessory pancreas, congenital malformations
of the pancreas and pancreatic canal NOS – excludes Diabetes
mellitus: congenital, neonatal, Fibrocystic disease of the
pancreas; Other specified malformations of the digestive system;
Absence (complete) (partial) of digestive tracts not elsewhere
classified; Duplication of digestive organs not elsewhere
classified; Congenital malformations of digestive organs not
elsewhere classified; Congenital mesenteric cyst not elsewhere
classified; Other specified congenital malformations of the
digestive system; Malformation of the digestive system not
specified: Congenital: NOS anomaly of the digestive system, NOS
deformation of the digestive system;
H. Congenital malformations of the genital organs Exclude androgen resistance syndrome, syndromes associated with abnormalities in the number and shape of chromosomes, feminized testicle syndrome:
H. Congenital malformations of the genital organs Exclude androgen resistance syndrome, syndromes associated with abnormalities in the number and shape of chromosomes, feminized testicle syndrome:
1. Congenital
malformations of the ovaries, Fallopian tubes and broad
ligaments – Congenital absence of the ovary – excludes Turner
syndrome: Congenital absence of the unspecified ovary,
Congenital absence of the unilateral ovary, Congenital absence
of the bilateral ovary; Unspecified developing ovarian cyst;
Ovarian cyst in single development; Ovarian cyst in multiple
development; Congenital torsion of the ovary; Other congenital
malformations of the ovary; Striated ovary; Other congenital
malformations of the ovary: ovary accessory, ovarian dysplasia,
hypoplasia of the ovary, congenital malformations of the ovary
NOS; Embryo cyst of the Fallopian tube: Fimbrial cyst; Embryo
cyst of the broad ligament: Cyst (al): epooporon, Gartner canal,
mesenteric rest, parovarian; Other congenital malformations of
the Fallopian tube and the broad ligament; Absence of fallopian
tube and broad ligament; Other congenital malformations of the
Fallopian tube and the broad ligament: Fallopian tube and broad
ligament enhancement, Fallopian tube and broad ligament atresia,
Fallopian tube congenital malformation and NOS broad ligament;
2. Congenital
malformations of the uterus and cervix: - Agenesis and aplasia
of the uterus: Congenital absence of the uterus; Double uterus
with cervix and double vagina; Other forms of double uterus:
Double uterus NOS; Uter bicorn; Uter unicorn; Agenesis and
aplasia of the cervix: Congenital absence of the cervix; Embryo
cyst of the cervix; Congenital fistula between the uterus and
the digestive and urinary tract; Other congenital malformations
of the uterus and cervix: Hypoplasia of the uterus and cervix;
Congenital malformations of the uterus and cervix not specified;
3. Other congenital
malformations of the female genital organs – Congenital absence
of the vagina; Double vagina: Vagina with septum – excludes
double vagina with uterus and double cervix; Congenital
rectal-vaginal fistula – excludes cloaca; Unperforated hymen;
Other congenital abnormalities of the vagina: Congenital
malformation of the vagina NOS, Cyst: congenital Nuck canal,
vaginal embryonic; The fusion of the vulva; Congenital
malformation of the clitoris; Other congenital malformations of
the vulva: Congenital(a): absence of vulva, vulva cyst, NOS
malformation of the vulva; Other specified congenital
malformations of the female genital organs; Congenital
malformations of unspecified female genitalia;
4. Undescended testicle –
Ectopic testicle: Unilateral or bilateral ectopic testicle;
Testicle not lowered unilaterally; Testicle not lowered
bilaterally; Unspecified undescended testicle: NoS cryptohidia;
5. Hypospadias – excludes
epispadias – Balanic hypospadias: Hypospadias: coronal,
glandular; Hypospadias penil; Hypospadias peno-scrotal; Perineal
hypospadias; Congenital chorga; Other forms of hypospadias;
Unspecified hypospadias;
6. Other congenital
malformations of the male genital organs – excludes congenital
hydrocele, hypospadias – Aplasia and testicle aplasia: Anohism;
Absence and aplasia of the testicle unspecified; Absence and
aplasia of the unilateral testicle: Monorhism; Absence and
aplasia of the bilateral testicle; Hypoplasia of the testicle
and scrotum: Merger of the testicles; Other congenital
malformations of the testicles and scrotum; Retractive testicle;
Scrot bifid; Other congenital malformations of the testicles and
scrotum: Congenital malformations of the testicles and scrotum
NOS, Polyorhism, Migrant Testicle; Atresia of the deferent
vessel; Other congenital malformations of the deferent vessel,
epididymis, seminal vesicles and prostate: Absence or aplasia:
prostate, spermatic cord, congenital malformations of the
deferent vessel, epididymis, seminal vesicles and NOS prostate;
Congenital absence and aplasia of the penis; Other congenital
malformations of the penis: Congenital malformations of the
penis NOS, Curve of the penis (lateral), Hypoplasia of the
penis; Other specified congenital malformations of the male
genital organs; Congenital malformations of the unspecified male
genital organ: Congenital: NOS anomaly of the male genital
organ, NOS deformation of the male genital organ;
7. Determined sex and
pseudohermaproditism – excludes pseudohermaproditism: female
with adrenocortical disorders, male with resistance to
androgens, with specified chromosomal abnormalities –
Hermaphrodite not elsewhere classified: Ovotestis; Male
pseudohermaphroditism not elsewhere classified: NoS male
pseudohermaphroditism; Female pseudohermaphroditism not
elsewhere classified: Female Pseudohermaphroditism NOS;
Pseudohermaphroditism unspecified; Unspecified determined sex:
Ambiguous genitalia;
I. Congenital
malformations of the urinary system:
1. Renal agenesis and
other kidney reduction defects - includes Kidney Atrophy:
congenital, infantile, Congenital absence of the kidney –
unilateral renal agenesis; Bilateral renal agenesis; Unspecified
renal agenesis; Unilateral renal hypoplasia; Bilateral renal
hypoplasia; Unspecified renal hypoplasia; Potter syndrome;
2. Cystic disease of the
kidney – excludes cyst of the acquired kidney, Potter syndrome –
Single congenital renal cyst: Cyst of the kidney (congenital)
(unique); Recessive autosomal polycystic kidneys: Infantile
polycystic kidneys; Dominant autosomal polycystic kidneys: Adult
polycystic kidneys; Unspecified polycystic kidneys; Renal
dysplasia: Unspecified renal dysplasia: NoS multicystic
dysplastic kidneys; Unilateral cystic renal dysplasia:
Unilateral multicystic dysplastic kidney; Bilateral cystic renal
dysplasia: Bilateral multicystic dysplastic kidney; Cystic
medullary kidney; Unspecified medullary cystic kidney: NoS
spongy kidney; Juvenile medullary cystic kidney:
Nephronophtisia; Adult medullary cystic kidney; Other cystic
diseases of the kidney: Degeneration or fibrocystic kidney
disease, glomerular cystic disease – excludes cystic kidney
disease associated with: tuberous sclerosis, Zellweger syndrome
– Cystic disease of the kidney unspecified: Meckel-Gruber
syndrome, Microcephaly with cystic kidney disease;
3. Congenital obstructive
defects of the renal pelvis and congenital malformations of the
ureter – Congenital hydronephrosis: Hydronephrosis diagnosed
before birth; Atresia and stenosis of the ureter: Congenital:
ureter occlusion, stricture of the ureter, waterproof ureter;
Atresia and stenosis of the unilateral uretero-pelvic junction;
Atresia and stenosis of bilateral uretero-pelvic junction;
Atresia and stenosis of the unilateral uretero-vescal junction;
Atresia and stenosis of bilateral uretero-vescal junction;
Atresia and stenosis of other and unspecified parts of the
unilateral ureter: Atresia and stenosis of the NOS ureter;
Atresia and stenosis of other and unspecified parts of the
bilateral ureter; Congenital meloureter: Congenital dilation of
the ureter; Other obstructive defects of the renal pelvis and
ureter; Ectopic ureterocele, orthotopic ureterocele; Congenital
polyp of the ureter; Congenital hydroureter; Other congenital
obstructive defects of the renal pelvis and ureter: NoS
congenital ureterocele; Agenesis of the ureter: Absent ureter;
Doubling the ureter: Accessory ureter; Double ureter: Complex
doubling of the ureter, double ureter; Triple ureter; Other
forms of duplication of the ureter: Duplication of the NOS
ureter; Malposition of the ureter: Deviation of the ureter or
ureteral orifice, displacement of the ureter or ureteral
orifice, Ectopia of the ureter or ureteral orifice, abnormal
implantation of the ureter or ureteral orifice; Malposition of
the ureter, site of drainage of the unspecified ureter;
Malposition of the ureter, the place of drainage of the ureter
via the urethra; Malposition of the ureter, the place of
drainage of the ureter via vagina; Malposition of the ureter,
the place of drainage of the ureter via the vulva; Malposition
of the ureter, site of drainage of the ureter deferential
vessels; Malposition of the ureter, the place of drainage of the
ureter via seminal vesicles; Malposition of the ureter, the
place of drainage of the ureter via other localizations;
Vesico-uretero-renal congenital reflux; Unspecified
vesico-uretero-renal congenital vesico-ureteral reflux –
excludes vesico-ureteral reflux associated with nephropathy –
unilateral vesico-uretero-renal congenital reflux; Bilateral
vesico-uretero-renal congenital reflux; Other congenital
malformations of the ureter: Anomaly of the ureter NOS;
4. Other congenital
malformations of the kidney – excludes congenital nephrotic
syndrome – accessory kidney; Double kidney: Doubling the kidney;
Triple kidney: Triple kidney; Other forms of kidney enhancement:
Kidney accessory NOS; Lobular kidneys fused in the form of horse
hoof; Unspecified kidney fusion anomaly: NOS renal fusion
abnormality; Kidneys in the form of horse hoof; Other
abnormalities of the kidney merge unspecified: Lobular kidney
without ectopia – excludes cross ectopia of the kidney with
fusion abnormality; Ectopic kidneys; Unspecified renal ectopia;
Pelvic kidneys; Cross ectopia of the kidney without melting
abnormality; Cross ectopia of the kidney with melting
abnormality; Other specified forms of renal ectopia: Kidney
malrotation; Hyperplastic or giant kidneys; Other specified
congenital malformations of the kidney; Congenital
calicdiverticula; Other congenital malformations of the kidney
specified: Congenital kidney stones – excludes congenital
caliceal diverticulum; Congenital malformation of the kidney
unspecified;
5. Other congenital
malformations of the urinary system – Epispadias – exclude
hypospadias; Exrophysis of the bladder; Cloacal extofia: cloacal
ectopia; Bladder extrophysia: bladder ectopia, bladder
extroversion – excludes cloacal extrofiala; congenital urethral
valves; Unspecified congenital urethral valves; Congenital
posterior urethral valves: congenital obstructive posterior
urethral membrane (COPUM); Congenital anterior urethral valves;
Other forms of atresia and stenosis of the urethra and bladder;
Congenital obstruction of the bladder neck: Congenital stricture
of the vesico-urethral orifice; Congenital stricture of the
urethra: Congenital stricture (stenosis) of the anterior
urethra, impermeable urethra; Congenital stricture of the
urethral meat; Hypoplasia of the urethra; Other forms of atresia
and stenosis of the urethra and neck of the bladder; the
malformation of the urace; The cyst of the ura, the visibility
of the urace; The divertof hatred; Other specified malformations
of the urace: Malformation of the urace NOS, Prolapse of the
urace; Congenital absence of the bladder and urethra; Congenital
bladder divergence: Parauretic diverticulum of the bladder;
Other congenital malformations of the bladder and urethra;
Anterior congenital urethral divergence; Congenital prolapse of
the bladder (mucosa); Double urethra: Double urinary meat;
Ectopic urethra or ectopic urethral orifice; Fistula of
congenital gastrointestinal-urinary tract: urethro-rectal
fistula; Congenital megauret; Megacystitis-megaureter syndrome;
Congenital urethral syringocel; Other congenital malformations
of the bladder and urethra: Accessory: bladder, urethra,
Congenital(a): bladder hernia, malformation of the bladder or
urethra NOS, prolapse of the urethra or urinary meat; Other
specified congenital malformations of the urinary system;
Congenital malformation of the unspecified urinary system:
Congenital: NOS anomaly of the urinary system, NOS deformation
of the urinary system;
J. Malformations and deformities of the osteoarticular system and muscles:
J. Malformations and deformities of the osteoarticular system and muscles:
1. Congenital hip
deformities – excludes noisy hip – Congenital dislocation of the
unilateral hip; Congenital dislocation of the bilateral hip;
Congenital dislocation of the unspecified hip; Congenital
subluxation of the unilateral hip; Congenital subluxation of the
bilateral hip; Congenital subluxation of the hip unspecified;
Unstable hip – includes disputable hip, subluxable hip;
Unspecified non-stable hip; Unilaterally unstable hip,
bilaterally unstable hip; Other congenital hip deformities:
Anteversion of the femoral neck, congenital acetabular
dysplasia, congenital coxa; valga, summer; Congenital deformity
of the hip unspecified;
2. Congenital deformities
of the foot – excludes corrected defects of the foot, valgus
deformities (acquired), varus deformities (acquired) –
equinovarus crooked leg; Calcaneovarus crooked leg; Varus of the
metatarsal; Other congenital deformities of the foot varus:
Hallux congenital varus; Leg crooked calcaneovalgus; Congenital
flat foot: Flat foot: congenital, stiff, spastic (evertit);
Other congenital deformities of the foot valgus: Valgus to the
metatarsal; Bolted foot; Other congenital deformities of the
foot: Foot in the form of a nos, Finger in congenital hammer,
Leg crooked: asymmetrical, NOS, Tarsal Coalescence, Vertical
Talus; Congenital deformity of the unspecified leg;
3. Congenital
musculoskeletal deformities of the head, face, spine and chest –
excludes syndromes of congenital malformations described for
multiple systems, Potter episode (syndrome) – Facial asymmetry;
Face compression – excludes Potter syndrome; Dolicocephaly;
Plagiocephaly: Asymmetric head; Other congenital deformities of
the skull, face and jaws; Cavities in the skull; Deviation of
congenital nasal septum; Other congenital deformities of the
skull, face and jaws: Congenital deformity of the skull, face
and jaws noS, atrophy or hemifacial hypertrophy, flattened or
curved congenital nose – excludes dental-facial abnormalities
(including malocclusion), Goldenhar syndrome
(oculo-auricul-vertebral syndrome), syphitic nose in the saddle;
Congenital deformities of the spine – excludes infantile
idiopathic scoliosis, scoliosis due to congenital malformation
of the bones – congenital scoliosis of posture; Congenital
postural curvature of the spinal cord: Congenital postural
curvature of the spinal cord NOS; Other specified congenital
deformities of the spinal cord: Congenital deformation of the
spinal cord NOS; Chest clogged: Chest in congenital funnel;
Carinated breast: Congenital pigeon breast; Other congenital
chest deformities: Congenital deformities of the noS chest wall;
4. Other congenital
musculoskeletal deformities – excludecorrection of defects of
the lower limb(s) – Congenital deformities of the
sternocleidomastoid muscle: Congenital Torcolis
(sternomastoidian muscles), Contracture of the
sternocleidomastoid muscle, Sternomamastoid muscle tumour
(congenital); Congenital deformities of the hand: Fingers in the
form of congenital bat, Hand in the form of a screed
(congenital); Congenital deformities of the knee: congenital(a):
dislocation of the knee, curved knee; Congenital curved femur –
excludes the anteversion of the femoral neck; Congenital tibia
and curved fibula; Congenital curvature of the long bones of the
unspecified leg; Other congenital musculoskeletal deformities
specified: congenital: Deformation of: clavicle, elbow, forearm,
scapula, Dislocation of: elbow, shoulder;
5. Polydactyly –
Supernumerary finger(s); Supernumerary police; Supernumerary
toe(s): Hallux accessory; Unspecified polydactyly: NoS
supernumerary finger(s);
6. Sindactylia – Merged
fingers: Complex sindactyly of the fingers in synostosis;
Fingers glued: Simple sindactyly of the fingers without
synostosis; Merged toes: Complex sindactyly of the toes with
synostosis; United toes: Simple sindactyly of the toes without
synostosis; Polysindactylia; Unspecified sindactyly: Symfalagia
NOS;
7. Correction of upper
limb defects – Full congenital absence of upper limb(s): Amelia
of the upper limbs; Congenital absence of the arm and forearm
with the presence of the hand: Focomelia of the arm; Congenital
absence of both the forearm and the hand; Congenital absence of
the hand and finger(s); Congenital absence of the finger(s) with
the hand remaining intact; Congenital absence of the thumb with
all other fingers intact; Congenital absence of the hand and
finger(s) – excludes: Congenital absence of: finger(s) with hand
left intact, thumb with all other fingers intact; Longitudinal
correction of radius defects: Absence of radius, Bat-shaped hand
(congenital), Radial bat-shaped hand – excludes Faconi anemia
with absent radius, thrombocytopenia with absent radius
syndrome; Longitudinal correction of cubitus defects: absence of
cubitus; Hand in the form of crayfish tongs: congenitally
cracked hand; other corrections of defects of the upper limb(s):
congenital shortening of the upper limb(s), hypoplasia of the
hand and fingers; Fault correction of the unspecified upper
limb(s): Congenital amputation of the upper limb NOS, NoS upper
member constructor ring syndrome;
8. Correction of defects
of the lower limbs - Congenital absence of the lower limb(s):
Amelia of the lower limb; Congenital absence of the thigh and
calf with the presence of the foot: Focomelia of the lower limb;
Congenital absence of both the calf and the foot; Congenital
absence of the foot and finger(s); Congenital absence of the
finger(s) with the foot remaining intact; Congenital absence of
the thumb with the other fingers intact; Congenital absence of
the foot and finger(s) - excludes the congenital absence of: the
thumb with all other fingers intact, the finger(s) with the
intact remains of the foot; Longitudinal correction of femur
defects: Proximal femoral focal deficiency; Longitudinal
correction of tibia defects: Absence of tibia; Longitudinal
correction of peronem defects: Absence of perone; The foot of
the split leg; Other corrections of defects in the lower
limb(s): congenital hypoplasia of the foot and finger(s),
congenital shortening of the lower limb(s); Correction of
defects in the unspecified lower limb: congenital amputation of
the lower limb NOS, constrictor ring syndrome of the lower limb
NOS;
9. Correction of defects
of an unspecified limb - Congenital absence of an unspecified
member(s): Amelia NOS; Unspecified limb foromelia: Focomelia
NOS; Other corrections of the defects of an unspecified
member(s); Correcting the defects of an unspecified unspecified
member(s): Correcting the defect of a NOS member(s); Other
corrected defects of an unspecified member(s): Absence of NOS
finger(s), Congenital amputation of an unspecified member(s),
Non-specified Member(s) Ring Syndrome, unspecified Member(s),
Longitudinal correction of the deformation of an unspecified
member(s), NOS Member(s), NOS Member(s) Hemilia(
10. Other congenital
malformations of the limb(s) – excludes polydactyly, correction
of a limb's defect, sindactyly – Other congenital malformations
of the upper limb(s) including the humeral belt; Accessory
carpal bones; Macrodactyly (fingers); Fingers of tricangian
hand; Radio-cubital synostosis: Radio-cubital dysostosis;
Humero-ulnar synostosis; Humero-radial synostosis; Finger(s)
bifid(s) of the upper limb; Sprengel deformation: Congenital
protrusion of the scapula; Other congenital malformations of the
upper limb(s) including the humeral belt: cleido-cranial
dysostosis, Cubitus valgus congenital and cubitus congenital
varus, Congenital pseudoarthrosis of the clavicle, Madelung
deformity, Spasm in the form of finger triggers; Congenital knee
abnormalities: Congenital:A: Absence of kneecap, Dislocation of
the kneecap, Knee: valgum, varum, rudimentary rotula –
congenital exclusion(a): Knee dislocation, curved knee, fixed
kneecap syndrome; Other congenital malformations of the lower
limb(s) including the pelvic belt: Congenital(a): Fusion of the
sacroiliac joint, Malformation: ankle (joint), sacro-iliac
(joint) – excludes the anteversion of the femur; Multiple
congenital arthroriposis; Other specified congenital
malformations of the limb(s); Brahidactilia; Congenital
overgrowth of the limb(s): Congenital hemihypertrophy;
Congenital growth below the normal level of the limb(s) –
excludes noS hemiatrophy; Congenital asymmetry of the limbs;
Lrsen syndrome; Other specified congenital malformations of the
limb(s): Congenital contracting of the limb; Unspecified
congenital malformation of the limb(s): Congenital abnormality
of the NOS limb(s);
11. Other congenital
malformations of the skull and facial bones – excludes
congenital malformation of the face NOS, Syndromes of congenital
malformations categorisable to systemic causes, Dental-facial
abnormalities (including malocclusion), musculoskeletal
deformities of the head and face, skull defects associated with
congenital brain abnormalities such as: anencephaly,
encephalocele, hydrocephalus, microcephaly – Craniosynostosis –
excludes: Acrocephalo(poly)sindactylia, Tanatophorica:
association of nanism/ trigonocephaly, dysplasia; Coronal
craniosynostosis: Brachycephalia; Sagittal craniosynostosis:
Csafocephalia; Trigonocephaly – excludes tanatophoric dwarfism;
Craniosynostosis with other multiple sutures: Acrocephaly,
Oxycephaly, Turripalia; Pfeiffer syndrome; Skull in the form of
clover leaf: Kleeblattshadel deformation syndrome; Other
craniosinostoses: Craniosynostosis NOS, Imperfect fusion of the
skull; Craniofacial disostosis: Crouzon disease; Hyperteleism;
Macrocephaly; Familial (benign) macrocephaly; Other forms of
macrocephaly: Macrocephaly NOS; Mandibula-facial dysostosis –
excludes mandibula-facial dysostosis occurring as part of
Treacher Collins syndrome (-Franceschetti) (-Klein);
Oculomandibular dysostosis – excludes oculomandibular dysostosis
occurring as part of Hallerman-Streiff syndrome; Other specified
congenital malformations of the skull and facial bones;
Fronto-nasal dysplasia: Median facial fissure syndrome; Other
specified congenital malformations of the skull and facial
bones: Congenital absence of a bone of the skull, Congenital
deformation of the forehead, Platibazia; Congenital malformation
of the skull and bones of the face unspecified: Congenital
anomaly of: Bones of the face NOS, Skull NOS;
12. Congenital
malformations of the spine and chest bones – excludes congenital
musculoskeletal deformities of the spine and chest – Spina
bifida occult – excludes meningocele (spinal), spina bifida
(open) (cystic); Klippel-Feil syndrome: Cervical fusion
syndrome; Congenital spondylolistesis and spondylosis:
Congenital spondylolysis – excludes spondylolistesis (acquired),
spondylolysis (acquired); Congenital spondylolistesis;
Congenital spondylolysis; Congenital scoliosis due to congenital
bone malformations: Merger or failure of segmentation with
scoliosis; Unique hemivertebra with congenital scoliosis;
Congenital scoliosis due to congenital malformations of the
specified bones: Congenital scoliosis due to congenital
malformation of the bones NOS, Cyphoscoliosis due to congenital
malformation of the bones NOS; Other congenital malformations of
the spine not associated with scoliosis – excludes congenital
malformations with scoliosis; Congenital absence of a vertebra;
Congenital anomaly of the sacral vertebra(s): sacral agenesis;
Congenital malformations of another vertebra: Congenital(s):
abnormalities of the lombo-sacral vertebra(s), malformation of
the lombosacral region (arthritis); Congenital lordosis of
posture; Hemivertebra; Other congenital malformations of the
spine: Congenital(a): fusion of the spine NOS, gheb NOS,
kyphosis NOS, lordosis NOS, Malformation of the spine NOS,
Platispondia NOS, Vertebra supernumerary NOS; Cervical rib:
Overnumbered ribs in the cervical region; Other congenital
malformations of the ribs; Congenital absence of ribs;
Congenital fusion of the ribs; Accessory rib – excludes cervical
rib; Other congenital malformations of the ribs: Congenital
malformation of the ribs NOS – excludes short rib syndrome;
Congenital malformations of the sternum; Congenital absence of
the sternum; Stern bifid; Other specified congenital
malformations of the sternum: Congenital malformation of the
sternum NOS; Other congenital malformations of the bones of the
chest; Congenital malformations of the bones of the chest not
specified;
13. Osteochondrodysplasia
with growth defects of the tubular bones and spine – excludes
mucopolysaccharides – Acondrogenesis; Unspecified
acondrogenesis; Acondrogenesis type 1 and type 2;
Hypocondrogenesis; Other forms of acondrogenesis; Tanatophorice
dwarf: Association of dwarfophoric dwarfism/ tanatophoreal
trigonocephaly, Tanatophoric dysplasia (with skull in the form
of clover leaf); Short rib syndrome: Asphyxiating thoracic
dysplasia (Jeune), Jeune syndrome; Dotted condrodysplasia:
Congenital calcefiant condrodystrophy, congenital multiple
epiphysis dysplasia, Conradi syndrome (-Hunerman), Rhimomic
syndrome - excludes embryopathy due to warfarin; Acondroplazia:
Acondroplazic Nanism, Hipocondroplazia; Condroectodermal
dysplasia: Ellis-van Creveld syndrome; Spondyloepiphysis
dysplasia; Other osteochondodiaplasia with defects in the growth
of the tubular bones and spine; Metatropic dwarfism: Metatropic
dysplasia; Metaphysis condroplazia: Metaphysis disostosis; Other
forms of osteochondrodysplasia with growth defects of the
tubular bones and spine: Acrodisostosis, Kniest dysplasia;
Osteochondrodysplasia with growth defects of the tubular bones
and unspecified spine;
14. Other
osteochondrodysplasias - Imperfect osteogenesis: Bone fragility,
Osteopsatirosis; Polyostotic fibrous dysplasia: Albright
syndrome (-McCune) (-Sternberg); Osteopetrosis: Albers-Schonberg
syndrome; Progressive diaphysal dysplasia: Camurati-Engelmann
syndrome; Encondromatosis: Maffucci syndrome, Ollier disease;
Metaphysis dysplasia: Pyle syndrome; Multiple congenital
exostosis: Diaphysal aclazia; Other specified
osteochondrodysplasias: Osteopoichilosis; Osteochondrodysplasia
unspecified: Condrodystrophy NOS, Osteodystrophy NOS;
15. Congenital
malformations of the musculoskeletal system not elsewhere
classified - excludes congenital torcolis (sternomastoid
muscles) - Congenital hernia of the diaphragm - excludes
congenital hiatal hernia; other congenital malformations of the
diaphragm: Absence of diaphragm, Congenital malformation of the
diaphragm NOS, Eventration of the diaphragm; Exomfalos:
Omphalocel - excludes umbilical hernia; Gastroschizis; Cut bowel
syndrome; Other congenital malformations of the abdominal
apparatus - excludes umbilical hernia; Ehlers-Danlos syndrome;
Other congenital malformations of the musculoskeletal system:
Absence: muscle, tendon, accessory muscle, congenital
amyotrophy, Congenital: constrictor aponevrosis, tendon
shortening, Poland syndrome; Congenital malformation of the
unspecified musculoskeletal system: Congenital: NOS anomaly of
the NOS musculoskeletal system, NOS deformation of the NOS
musculoskeletal system;
K. Other birth defects:
1. Congenital ihtiosis -
excludes Refsum disease - vulgar Ihtiosis; Ihtiosis with
association; Lamellar ihtiosis: viscous child; Congenital
bullous yhtiosiform erythrodermy; Harlequin prince; Other
congenital ihtiosis; Unspecified congenital ihtiosis;
2. Bulous epidermosis -
Simple bullous epidermosis - excludes Cockayne syndrome; Lethal
bullous epidermolysis: Herlitz syndrome; Dystrophic bullous
epidermosis; Other bullous epidermolysis; Unspecified bullous
epidermolysis;
3. Other congenital
malformations of the skin - excludes enteropathic
acrodermatitis, congenital erythropoietic porphyria, cyst or
pylonidal sinus, Sturge-Weber syndrome (-Dimitri) - Hereditary
lymphoedema; Xeroderma pigmentosa; Mastocytosis: pigmentary
urticaria - excludes malignant mastocytosis; Pigment deficiency;
Ectodermal (anhydrotic) dysplasia - excludes Ellis-van Creveld
syndrome; Non-neoplastic congenital nev: NoS birthmark, Nev:
reddened, the color of Porto wine, bloody, form of fragrant,
vascular NOS, verucos - excludes Pete "coffee with milk",
Lentigo, Nev: spider-shaped, melanocytic, NOS, pigmented,
spider, star; Other specified congenital malformations of the
skin: Abnormal palmar disorders, Skin accessories, familial
benign pemfigus (Hailey-Hailey), Lax (hyperelastic) cutes,
dermatoglyphic abnormalities, hereditary palmar and plantar
keratosis; Follicular keratosis (Dariei-White) - excludes
Ehlers-Danlos syndrome; Congenital malformations of the skin not
specified;
4. Congenital
malformations of the breast - excludes the absence of pectoral
muscle - Congenital absence of the breast with the absence of
the nipple; Breast accessory: Supernumerary breast; Absence of
nipple; Accessory nipple: supernumerary nipple; Other congenital
malformations of the breast: hypoplasia of the breast;
Congenital malformation of the unspecified breast;
5. Other congenital
malformations of the skin - Congenital alopecia: Congenital
atricosis; Congenital morphological disorders of hair not
elsewhere classified: Pearl hair, Moniletrix, Ringed pillars,
flattened hair - excludes Menkes curly hair syndrome; Other
congenital malformations of the hair: Congenital: hypertricosis,
noS hair malformation, persistent Lanugo; Anonichia: Congenital
absence of the nail - excludes fixed kneecap syndrome;
Congenital luechonichia; Enlarged or hypertrophic nails:
Congenital onychauxis, Pachionichia; Other congenital nail
malformations: Congenital: crooked nail, koilonichia, NOS nail
malformation; Other specified congenital malformations of the
skin; Congenital skin aplasia; Other specified congenital
malformations of the skin; Congenital malformations of the
unspecified skin: Congenital: NOS anomaly of the NOS skin, NOS
deformation of the NOS skin;
6. Facomatoses not
elsewhere - excludes telangiectasis ataxia, familial
dysautonomia - Neurofibromatosis (nonmalignant): von
Recklinghausen disease; Tuberous sclerosis: Bourneville disease,
Epiloia; Other facomatosis - excludes Meckel-Gruber syndrome;
Peutz-Jeghers syndrome; Sturge-Weber syndrome(-Dimitri); Von
Hippel-Lindau syndrome; Gardner syndrome: Intestinal osteomatous
polyposis syndrome; Other specified facomatosis; Unspecified
facomatosis: Hamartosis NOS;
7. Congenital malformation
syndromes due to known exogenous causes not elsewhere classified
- excludes iodine deficiency related to hypothyroidism,
neteratogenic effects of substances transmitted by placental or
through breastfeeding - Fetal (dysmorphic) syndrome due to high
alcohol consumption by the mother during pregnancy; Fetal
hydantoin syndrome: Meadow syndrome; Dysmorphism due to
warfarin; other syndromes of congenital malformations due to
known exogenous causes; Congenital malformations due to esters
or salts of valproic acid; Congenital malformations due to
vitamin A; Congenital malformations due to thalidomide;
Congenital malformations due to cytotoxic agents; Congenital
malformations due to other drugs - excludes dysmorphism due to
warfarin; Congenital malformations due to ionizing radiation;
Congenital malformations due to mercury methyls; Congenital
malformations due to specified exogenous causes;
8. Other syndromes of
congenital malformations specified affecting multiple systems -
Syndromes of congenital malformations affecting in particular
the physiognomy of the face; Acrocephalopolisindactylia:
Acrocephalopolisindactyly type 1 Noack syndrome,
Acrocephalopolisindactyly type 2 Carpenter syndrome;
Acrocephalopolisindactylia: Apert syndrome, vogt
cephalodactylia; Cryptoophthalmic syndrome: Fraser syndrome;
Treacher Collins syndrome (-Franceschetti) (-Klein) - excludes
mandibula-facial dysostosis occurring as an isolated
abnormality; Episode Pierre Robin: Pena-Shokeir Syndrome:
Pulmonary hypoplasia syndrome with campodactic ankylosing facial
abnormalities; Other congenital malformation syndromes affecting
in particular facial physiognomy: Congenital malformation
syndrome affecting in particular the physiognomy of the face
NOS, Cyclopia (cyclop) (cyclopism) (sinophthalmia),
Discraniopigofalangism, Hereditary progressive
arthro-ophthalmia, Syndrome: Goldenhar, Moebius, Mohr,
Oculo-auriculo-vertebral (hemifacial microsomy),
oro-facial-digital type 1 and 2, Stickler, trico-rino-phalange
type 1 and 2 (Langer-Giedion), Ullrich-Feichtiger, Wistling
physiognomy – excludes cheism , Waardenburg syndrome; Congenital
malformation syndromes associated especially with short stature
– excludes Ellis-van Creveld syndrome, Turner syndrome(-Ulrich);
Cockayne syndrome; Cornelia de Lange syndrome: Pitic Amsterdam
(Brachinn-de Lange syndrome; Noonan syndrome: Turner
syndrome-like condition; Prader-Willi syndrome; Russell-Silver
syndrome; Seckel syndrome: bird-headed dwarfism, primordial
micro-chefalic dwarfism; Smith-Lemli-Opitz syndrome:
7-dehydrocholesterol reduction deficiency; Sjogren-Larsson
syndrome: fat alcoholism: deficiency in nicotinamide adenine
diucleotide oxidoreductase; Other syndromes of unspecified birth
defects associated in particular with short stature: Congenital
malformation syndrome associated in particular with short nos
stature, Syndrome: Arskog, Dubowitz, Robinow-Silverman-Smith;
Congenital malformation syndromes involving in particular the
limbs – excludes Fanconi anemia with the absence of radius;
Holt-Oram syndrome; Klippel-Trenaunay-Weber syndrome; Fixed
kneecap syndrome; Rubinstein-Taybi syndrome; Mermaid syndrome;
Thrombocytopenia with radius absence syndrome: TAR syndrome;
Vater Association: VACTERL Association; Other specified
congenital malformation syndromes involving in particular the
limbs: congenital malformation syndromes involving early rapid
growth; Beckwith-Wiedemann syndrome: Beckwith syndrome; Sotos
syndrome: cerebral gigantism; Weaver syndrome; Other specified
congenital malformation syndromes involving early rapid growth:
congenital malformation syndromes involving early rapid noS
growth; Marfan syndrome: noS arachnodactylia; Other syndromes of
congenital malformations with other skeletal changes; Other
syndromes of birth defects not elsewhere classified; Alport
syndrome; Laurence-Moon-Biedl syndrome: Laurence-Moon
syndrome(-Bardet)-Biedl; Zellweger syndrome: Zellweger syndrome
is a peroxisomal disorder – excludes Zellweger pseudosyndrome,
zellweger syndrome-like condition; William syndrome; Angelman
syndrome; Other specified congenital malformation syndromes not
elsewhere classified;
9. Other congenital
malformations not elsewhere classified – congenital
malformations of the spleen; Congenital asplenia: congenital
absence of the spleen; Other specified congenital malformations
of the spleen: Congenital splenomegaly (hyperplasia of the
spleen), spleen accessory, ectopic spleen, hypoplasia of the
spleen, NOS malformation of the spleen, Spleen deformity –
excludes isomerism of cardiac auricles (with asplenia or
polysplenia); Congenital malformations of the adrenal gland;
Congenital absence of the adrenal gland; Congenital hypoplasia
of the adrenal gland; Other specified congenital malformations
of the adrenal gland: Accessory adrenal gland, ectopic adrenal
gland; NOS malformation of the adrenal gland – excludes
congenital hyperplasia of the adrenal gland; Congenital
malformations of other endocrine glands; Congenital
malformations of the pituitary gland; Congenital malformations
of the thyroid gland; Persistent glosso-thyroid cyst;
Gloso-thyroid cyst; Congenital malformations of the parathyroid
gland; Congenital malformations of the thymus; Congenital
malformations of other specified endocrine glands: congenital
malformations of the NOS endocrine glands; Situs inversus –
excludes NOS dextrocardia, levocardia; Situs invertus
unspecified: situs invertus NOS; Dextrocardia with situs
inversus; Atrial mirror arrangement with reverse position;
Abdominal inversus situs: abdominal transversus situs,
transposition of abdominal viscera; Situs inversus thoracic:
situs transversus thoracic, transposition of thoracic viscera;
Kartagener syndrome: Kartagener triad – excludes other syndromes
of imotility of the cilia; Other specified forms of situs
inversus; Twins united; Dicephalia: two heads; Craniopagus:
twins with their heads glued together; Toracopagus: twins with
glued thorax; Xifopagus: twins with glued pelvis or xyphoid;
Pigopaus: twins with glued buttocks; Acardiac twin; Other forms
of united twins: united twins NOS; Multiple birth defects not
elsewhere classified – excludes syndromes of congenital
malformations affecting multiple systems; Dysmorphic traits: NOS
dysmorphism; Multiple birth defects not elsewhere classified:
Multiple congenital: NOS abnormalities, NOS deformities; Other
specified birth defects; Episode of caudal dysplasia; Other
specified birth defects: NOS congenital malformation;
Unspecified congenital malformation: Congenital: NOS anomaly,
NOS deformity;
L. Chromosome
abnormalities not elsewhere classified:
1. Down syndrome – Trisomy
21 meiotic non-disjunction; Trisomy 21 mosaicism (mitotic
non-disjunction); Trisomy 21 translocation; Unspecified Down
syndrome: Trisomy 21 NOS;
2. Edwards syndrome and
Patau syndrome – Trisomy 18 meiotic non-disjunction; Trisomy 18
mosaicism (mitotic non-disjunction); Trisomy 18 translocation;
Edwards syndrome unspecified; Trisomy 13 meiotic
non-disjunction; Trisomy 13 mosaicism (mitotic non-disjunction);
Trisomy 13 translocation; Unspecified Patau syndrome;
3. Other partial trisomy
and trisomy of autosomes not elsewhere classified – includes
unbalanced translocations and insertions and excludes chromosome
trisomy – complete trisomy of the non-disjunction meiotic
chromosome; Complete trisomy of the mosaicism chromosome
(mitotic non-disjunction); Partial major trisomy: whole arm or
multiple duplicates; Partial minor trisomy: less than the entire
duplicate branch; Doubling observed only in promethaphase;
Doubling with other complex rearrangements; Extramarker
chromosomes; Triploidia and polyploidia; Other specified partial
trisomy or trisomy of autosoms; Trisomy or partial trisomy of
unspecified autosoms;
4. Monosomy and absence of
autosoms not elsewhere classified – Total monosomy of
chromosomes without meiotic disjunction; Total monosomy of
mosaicism chromosomes (without mitotic disjunction); Chromosomes
re-placed with ring or dicentrics; Absence of the short branch
of chromosome 4: Wolff-Hirschorn syndrome; Absence of the short
branch of chromosome 5: Cri-du-chat syndrome; Other forms of
absence of part of the chromosome; Absence observed only in
promethaphase; Absence with other complex rearrangements; Other
forms of absence of autosoms; Absence of unspecified autosomi;
5. Balanced rearrangement
and structural markers not elsewhere classified – includes
balanced and Robertsonian translocations and mutual insertions –
Balanced translocations and insertions to normal individuals;
Chromosome reversal in normal individuals; Balanced autosomal
rearrangements in abnormal individuals; Balanced sex/autosomal
rearrangements in abnormal individuals; Individuals with
heterochromatic markers; Individuals with fragile autosomal
position; Other balanced arrangements and structural markers;
Balanced rearrangements and unspecified structural markers;
6. Turner Syndrome –
Turner Ullrich Syndrome, Bennevie Ullrich Syndrome – excludes
Noonan syndrome, Turner syndrome-like condition – Kariotype 45
X; Kariotip 46 X iso (Xq); Kariotype 46 X with abnormal sex
chromosome except iso (Xq); Mosaicism 45; X/ 46; XX or XY;
Mosaicism 45 X/ other cell line with abnormal sexual chromosome;
Other variants of Turner syndrome; Unspecified Turner syndrome;
7. Other sexual
chromosomal abnormalities female phenotype not elsewhere
classified – excludes Turner syndrome – Kariotype 47 XXX; Female
with more than 3 X chromosomes; Mosaicism lines with variable
numbers on X chromosomes; Female with kariotype 46 XY; Other
abnormalities specified by female phenotype sex chromosomes;
Abnormalities of female phenotype sex chromosomes not specified;
8. Other male chromosomal
chromosomal abnormalities not elsewhere classified – Klinefelter
kariotype syndrome 47 XXY; Male Klinefelter syndrome with more
than 2 X chromosomes; Male Klinefelter syndrome with kariotype
46 XX; Unspecified Klinefelter syndrome; Kariotip 47 XYY; Male
with abnormally structured sex chromosome; Man with mosaicism
with sex chromosomes; Other abnormalities specified by male
phenotype sex chromosomes; Anomalies of sex chromosomes male
phenotype not specified;
9. Other chromosome
abnormalities not elsewhere classified – Chimera 46 XX/ 46 XY:
Chimera 46 XX/ 46 XY true hermaphrodite; 46 XX hermaphrodite
real: 46 XX with gonads features, 46 XY with gonads features,
pure gonadic dysgenesis; Fragile X chromosome: fragile X
chromosome syndrome; Other specified chromosomal abnormalities;
Unspecified chromosomal abnormalities;
Dorin, Merticaru