List of ICD-9 codes 740-759: congenital anomalies

From Wikipedia, the free encyclopedia

Contents 1 14. Congenital anomalies (740-759) 1.1 nervous system 1.2 eye, ear, face and neck 1.3 circulatory system 1.4 respiratory system 1.5 digestive system 1.6 genital organs 1.7 urinary system 1.8 musculoskeletal system 1.9 integument 1.10 chromosomal anomalies 1.11 Other 2 See also

[edit] 14. Congenital anomalies (740-759)

[edit] nervous system

• (740) Anencephalus and similar anomalies
  • (740.0) Anencephalus

• (741) Spina bifida

• (742) Other congenital anomalies of nervous system
  • (742.1) Microcephalus
  • (742.3) Hydrocephalus

[edit] eye, ear, face and neck

• (743) Congenital anomalies of eye
  • (743.0) Anophthalmos
  • (743.1) Microphthalmos
  • (743.2) Buphthalmos
  • (743.3) Congenital cataract and lens anomalies
  • (743.4) Coloboma and other anomalies of anterior segment
    • (743.45) Aniridia
  • (743.5) Congenital anomalies of posterior segment
  • (743.6) Congenital anomalies of eyelids, lacrimal system, and orbit

• (744) Congenital anomalies of ear, face, and neck
  • (744.0) Anomalies of ear causing impairment of hearing
  • (744.1) Accessory auricle
  • (744.2) Other specified congenital anomalies of ear
    • (744.22) Macrotia
    • (744.23) Microtia
  • (744.3) Unspecified congenital anomaly of ear
  • (744.4) Branchial cleft cyst or fistula; preauricular sinus
  • (744.5) Webbing of neck
  • (744.8) Other specified congenital anomalies of face and neck
    • (744.81) Macrocheilia
    • (744.82) Microcheilia
    • (744.83) Macrostomia
    • (744.84) Microstomia

[edit] circulatory system

• (745) Bulbus cordis anomalies and anomalies of cardiac septal closure
  • (745.0) Common truncus
  • (745.1) Transposition of great vessels
  • (745.2) Tetralogy of fallot
  • (745.3) Common ventricle
  • (745.4) Ventricular septal defect
  • (745.5) Atrial septal defect
  • (745.6) Endocardial cushion defects
  • (745.7) Cor biloculare

• (746) Other congenital anomalies of heart
  • (746.1) Tricuspid atresia and stenosis congenital
  • (746.2) Ebstein's anomaly
  • (746.3) Congenital stenosis of aortic valve
  • (746.4) Congenital insufficiency of aortic valve
  • (746.5) Congenital mitral stenosis
  • (746.6) Congenital mitral insufficiency
  • (746.7) Hypoplastic left heart syndrome
  • (746.8) Other specified congenital anomalies of heart
    • (746.81) Subaortic stenosis congenital
    • (746.82) Cor triatriatum
    • (746.83) Infundibular pulmonic stenosis congenital
    • (746.84) Congenital obstructive anomalies of heart not elsewhere classified
    • (746.85) Coronary artery anomaly congenital
    • (746.86) Congenital heart block
    • (746.87) Malposition of heart and cardiac apex
    • (746.89) Other specified congenital anomalies of heart
      • Brugada syndrome

• (747) Other congenital anomalies of circulatory system
  • (747.1) Coarctation of aorta
    • (747.11) Interruption of aortic arch
  • (747.2) Other congenital anomalies of aorta
  • (747.3) Congenital anomalies of pulmonary artery
  • (747.4) Congenital anomalies of great veins
  • (747.5) Absence or hypoplasia of umbilical artery
  • (747.6) Arteriovenous malformation, unspec.
  • (747.8) Other specified anomalies of circulatory system
    • (747.81) Congenital anomalies of cerebrovascular system
    • (747.82) Spinal vessel anomaly
    • (747.83) Persistent fetal circulation
  • (747.9) Unspecified congenital anomaly of circulatory system

[edit] respiratory system

• (748) Congenital anomalies of respiratory system
  • (748.0) Choanal atresia

[edit] digestive system

• (749) Cleft palate
  • (749.0) Cleft palate, unspec.
  • (749.2) Cleft palate w/ cleft lip

• (750) Other congenital anomalies of upper alimentary tract
  • (750.0) Tongue tie
  • (750.5) Pyloric stenosis

• (751) Other congenital anomalies of digestive system
  • (751.0) Meckel's diverticulum
  • (751.2) Imperforate anus
  • (751.3) Hirschsprung's disease

[edit] genital organs

• (752) Congenital anomalies of genital organs
  • (752.4) Anomalies of cervix, vagina, and external female genitalia
    • (752.42) Imperforate hymen
  • (752.5) Undescended testicle
  • (752.6) Hypospadias and epispadias
    • (752.61 Hypospadias
    • (752.62 Epispadias
    • (752.63 Congenital chordee
    • (752.64 Micropenis

[edit] urinary system

• (753) Congenital anomalies of urinary system
  • (753.0) Renal agenesis and dysgenesis
  • (753.1) Cystic kidney disease
  • (753.2) Obstructive defects of renal pelvis and ureter
  • (753.3) Other specified anomalies of kidney
    • Renal ectopia
    • Horseshoe kidney
  • (753.4) Other specified anomalies of ureter
    • Ectopic ureter
  • (753.5) Exstrophy of urinary bladder
  • (753.6) Atresia and stenosis of urethra and bladder neck
  • (753.7) Anomalies of urachus
    • Urachal cyst
  • (753.8) Other specified anomalies of bladder and urethra
  • (753.9) Unspecified anomaly of urinary system

[edit] musculoskeletal system

• (754) Certain congenital musculoskeletal deformities
  • (754.1) Torticollis, sternomastoid
  • (754.3) Dislocation of hip, unilateral
  • (754.5) Varus deformities of feet
    • (754.51) Talipes equinovarus
  • (754.6) Valgus deformities of feet
  • (754.8) Other specified nonteratogenic anomalies
    • (754.81) Pectus excavatum

• (755) Other congenital anomalies of limbs
  • (755.0) Polydactyly
  • (755.5) Other congenital anomalies of upper limb including shoulder girdle
    • (755.55) Acrocephalosyndactyly
      • Apert syndrome
  • (755.9) Limb anomaly, unspec.

• (756) Other congenital musculoskeletal anomalies
  • (756.1) Anomalies of spine
    • (756.12) Spondylolisthesis
    • (756.17) Spina bifida occulta
  • (756.5) Osteodystrophies
    • (756.51) Osteogenesis imperfecta
  • (756.6) Congenital anomalies of diaphragm
  • (756.7) Congenital anomalies of abdominal wall

[edit] integument

• (757) Congenital anomalies of the integument
  • (757.3) Other specified anomalies of skin
    • (757.32) Birthmarks
    • (757.39) Other specified congenital anomalies of skin
      • Bloom syndrome
      • Epidermolysis bullosa
      • Pseudoxanthoma elasticum
  • (757.6) Supernumerary nipple

[edit] chromosomal anomalies

• (758) Chromosomal anomalies
  • (758.0) Down syndrome
  • (758.1) Patau's syndrome
  • (758.2) Edward's syndrome
  • (758.3) Autosomal deletion syndromes
    • (758.31) Cri du chat
    • (758.32) Velo-cardio-facial syndrome
    • (758.33) Other microdeletions
      • Miller-Dieker syndrome
      • Smith-Magenis syndrome
  • (758.4) Balanced autosomal translocation in normal individual
  • (758.5) Other conditions due to autosomal anomalies
  • (758.6) Gonadal dysgenesis
    • Turner's syndrome
    • XO syndrome
  • (758.7) Klinefelter's syndrome
  • (758.8) Other conditions due to sex chromosome anomalies
  • (758.9) Conditions due to anomaly of unspecified chromosome

[edit] Other

• (759) Other and unspecified congenital anomalies
  • (759.0) Anomalies of spleen, congenital
  • (759.1) Anomalies of adrenal gland, congenital
  • (759.2) Anomalies of other endocrine glands, congenital
  • (759.3) Situs inversus
  • (759.4) Conjoined twins
  • (759.5) Tuberous sclerosis
  • (759.6) Other congenital hamartoses, not elsewhere classified
    • Cowden syndrome
  • (759.7) Multiple congenital anomalies, so described
  • (759.8) Other specified congenital anomalies
    • (759.81) Prader-Willi syndrome
    • (759.82) Marfan syndrome
    • (759.83) Fragile X syndrome
    • (759.89) Other specified congenital anomalies
  • (759.9) Congenital anomaly, unspecified

[edit] See also

• List of ICD-9 codes
• ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
• Congenital disorder

v • d • e Pathology: Medical conditions (Diseases/Disorders/Illness, Syndromes/Sequences, Symptoms/Signs, Injuries, etc.) and ICD codes (A/B, 001-139) Infectious disease/Infection: Bacterial disease (G+, G-) · Virus disease · Parasitic disease (Protozoan infection, Helminthiasis, Ectoparasitic infestation) · Mycosis · Zoonosis (C/D, 140-239 & 280-289) Cancer (C00-D48, 140-239) Tumor Myeloid hematologic (D50-D77, 280-289) Anemia · Coagulopathy Lymphoid immune (D80-D89, 279) Immunodeficiency · Immunoproliferative disorder · Hypersensitivity (E, 240-278) Endocrine disease · Nutrition disorder · Inborn error of metabolism (F, 290-319) Mental disorder (G, 320-359) Nervous system disease (CNS, PNS) · Neuromuscular disease (H, 360-389) Eye disease · Ear disease (I, 390-459) Cardiovascular disease (Heart disease, Vascular disease) (J, 460-519) Respiratory disease (Obstructive lung disease, Restrictive lung disease, Pneumonia) (K, 520-579) Stomatognathic disease (Tooth disease) · Digestive disease (Esophageal, Stomach, Enteropathy, Liver, Pancreatic) (L, 680-709) Skin disease · skin appendages (Nail disease, Hair disease, Sweat gland disease) (M, 710-739) Musculoskeletal disorders · Osteochondropathy (Osteopathy, Chondropathy) (N, 580-629) Urologic disease (Nephropathy, Urinary bladder disease) · Male genital disease · Breast disease · Female genital disease (O, 630-679) Complications of pregnancy · Obstetric labor complication · Puerperal disorder (P, 760-779) Fetal disease (Q, 740-759) Congenital disorder (R, 780-799) Syndromes · Medical signs (Eponymous) (S/T, 800-999) Bone fracture · Joint dislocation · Sprain · Strain · subluxation · Head injury · Chest trauma · Poisoning

v • d • e Congenital malformations and deformations of nervous system (Q00-Q07, 740-742) Brain Neural tube defect Anencephaly (Acephaly, Acrania, Iniencephaly) · Encephalocele · Arnold-Chiari malformation Other Microcephaly · Congenital hydrocephalus (Dandy-Walker syndrome) other reduction deformities (Holoprosencephaly, Lissencephaly, Pachygyria, Hydranencephaly) Septo-optic dysplasia · Megalencephaly CNS cyst (Porencephaly, Schizencephaly) Polymicrogyria (Bilateral frontoparietal polymicrogyria) Spinal cord Neural tube defect Spina bifida · Rachischisis Other Currarino syndrome · Diastomatomyelia · Syringomyelia central nervous system navs: anat/physio/dev, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of eyes (Q10-Q15, 743) Adnexa Eyelid Ptosis · Ectropion · Entropion · Distichia · Blepharophimosis · Ablepharon · Marcus Gunn phenomenon Lacrimal apparatus Congenital lacrimal duct obstruction Globe Entire eye Anophthalmia · Microphthalmia Lens Ectopia lentis · Aphakia Iris Aniridia Anterior segment Axenfeld syndrome Cornea Keratoglobus · Megalocornea Other Buphthalmos · Coloboma · Hydrophthalmos · Norrie disease eye navs: anat/adnexa anat/pathways/physio/dev, noncongen/congen/neoplasia, eponymous signs, proc

v • d • e Congenital malformations and deformations of ears (Q16-Q17, 744.0-744.3) Ears Macrotia · Microtia · Low-set ears ear navs: anat/pathways/physio/dev, noncongen/congen, eponymous signs, proc

v • d • e Congenital malformations and deformations of face and neck (Q18, 744.4-744.9) Face jaw: Otocephaly mouth: Macrostomia · Microstomia lip: Macrocheilia · Microcheilia multiple: Hallermann-Streiff syndrome Neck Webbed neck mouth navs: anat/dev, noncongen/congen face/congen GI/neoplasia, symptoms, proc

v • d • e Congenital heart defects (Q20-Q24, 745-746) Cardiac shunt/ heart septal defect Aortopulmonary septal defect R→L: Double outlet right ventricle (Taussig-Bing syndrome) · Transposition of the great vessels (dextro, levo) · Persistent truncus arteriosus Aortopulmonary window Atrial septal defect L→R: Sinus venosus atrial septal defect · Lutembacher's syndrome Ventricular septal defect L→R and R→L: Eisenmenger's syndrome R→L, with other conditions: Tetralogy of Fallot Atrioventricular septal defect L→R: Ostium primum Valvular heart disease/ heart chambers Right pulmonary valves (stenosis, insufficiency) · tricuspid valves (stenosis, atresia, Ebstein's anomaly) · Hypoplastic right heart syndrome Left aortic valves (stenosis, insufficiency, bicuspid) · mitral valves (stenosis, regurgitation) · Hypoplastic left heart syndrome Other Dextrocardia · Levocardia · Cor triatriatum · Crisscross heart · Brugada syndrome · Coronary artery anomaly · Ventricular inversion heart navs: anat/physio/dev, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital vascular defects (Q25-Q28, 747) Great arteries/ other arteries Aorta Patent ductus arteriosus · Coarctation of the aorta · Interrupted aortic arch · Overriding aorta · Aneurysm of sinus of Valsalva · Vascular ring Pulmonary artery Pulmonary atresia · Stenosis of pulmonary artery Subclavian artery Aberrant subclavian artery Great veins Superior/inferior vena cava Congenital stenosis of vena cava · Persistent left superior vena cava Pulmonary vein Anomalous pulmonary venous connection (Total, Partial) · Scimitar syndrome Arteriovenous malformation Cerebral arteriovenous malformation vascular navs: anat/physio/dev, noncongen/systemic vasculitis/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of respiratory system (Q30-Q34, 748) Upper RT Nose Choanal atresia Larynx Laryngocele - Laryngomalacia Lower RT Trachea and bronchus Tracheomalacia - Tracheal stenosis - Bronchomalacia - Mounier-Kuhn syndrome Lung Bronchiectasis - Pulmonary hypoplasia - Pulmonary sequestration - Congenital cystic adenomatoid malformation respiratory system navs: anat nose,larynx/lower+thoracic cavity/physio/dev, noncongen/congen/tumors, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of digestive system (Q35-Q45, 749-751) Upper GI tract Tongue, mouth and pharynx Cleft lip and palate · Van der Woude syndrome · tongue (Ankyloglossia, Macroglossia, Hypoglossia) Esophagus EA/TEF (Esophageal atresia: types A, B, C, and D, Tracheoesophageal fistula: types B, C, D and E) esophageal rings (Esophageal web  · upper, Schatzki ring · lower) Stomach Pyloric stenosis · Hiatus hernia Lower GI tract Intestines Intestinal atresia (Duodenal atresia) · Meckel's diverticulum · Hirschsprung's disease · Intestinal malrotation · Dolichocolon · Enteric duplication cyst Rectum/anus Imperforate anus · Persistent cloaca Accessory Pancreas Annular pancreas · Accessory pancreas · Johanson-Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts (Caroli disease) · Biliary atresia Liver Alagille syndrome mouth navs: anat/dev, noncongen/congen face/congen GI/neoplasia, symptoms, proc digestive system navs: anat of tract,glands,perit,diaphragm/physio/dev, noncongen/congen/congen of d+w/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of sex organs (Q50-Q56 · 752) Female Uterine malformation Müllerian agenesis · Unicornuate uterus · Uterus didelphys · Bicornuate uterus · Uterine septum · Arcuate uterus Other Vaginal septum · Clitoromegaly Male Testicle Cryptorchidism · Polyorchidism · Monorchism · Anorchia · Sertoli cell-only syndrome Penis Hypospadias · Chordee · Micropenis · Macropenis · Penile agenesis · Diphallia Vas deferens Congenital absence of the vas deferens SDS/DSD Pseudohermaphroditism · True hermaphroditism · Mixed gonadal dysgenesis · Swyer syndrome · Persistent Mullerian duct syndrome reproductive system navs: anat female,male/physio/dev, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of urinary system (Q60-Q64, 753) Abdominal Kidney Renal agenesis/Potter sequence, Papillorenal syndrome cystic (Polycystic kidney disease, Meckel syndrome, Multicystic dysplastic kidney, Medullary sponge kidney) Horseshoe kidney - Renal ectopia - Nephronophthisis Dent's disease - Alport syndrome Ureter Ectopic ureter - Megaureter Pelvic Bladder Bladder exstrophy Urethra Epispadias - Hypospadias Vestigial Urachus Urachal cyst urinary system navs: anat/physio/dev, noncongen/acid+base/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q76, 754-756.3) Limb/ dysmelia Upper clavicle/shoulder: Cleidocranial dysostosis · Sprengel's deformity · Wallis Zieff Goldblatt syndrome hand deformity: Madelung's deformity · Clinodactyly Lower hip: Dislocation of hip/Hip dysplasia · Upington disease · Coxa valga · Coxa vara knee: Genu valgum · Genu varum foot deformity: Club foot · Flat feet · Pes cavus · Rocker bottom foot Either/both dactyly/digit: Polydactyly/Syndactyly (Webbed toes) · Arachnodactyly · Cenani Lenz syndactylism · Ectrodactyly · Brachydactyly reduction deficits/limb: Acheiropodia · ectromelia (Phocomelia, Amelia, Hemimelia) multiple joints: Arthrogryposis · Larsen syndrome · Rapadilino syndrome Craniofacial Craniosynostosis: Scaphocephaly · Oxycephaly · Trigonocephaly Craniofacial dysostosis: Crouzon syndrome · Hypertelorism · Hallermann-Streiff syndrome · Treacher Collins syndrome other: Macrocephaly · Platybasia · Craniodiaphyseal dysplasia · Dolichocephaly · Greig cephalopolysyndactyly syndrome · Plagiocephaly · Saddle nose Other axial spine: spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta ribs: Cervical rib · Bifid rib sternum: Pectus excavatum · Pectus carinatum joint navs: anat, non-congenital arthropathies/deformities/dorsopathies/soft tissue arthropathy/congenital, eponymous signs, proc

v • d • e Osteochondrodysplasia (Q77-Q78, 756.4-756.5) Osteodysplasia/ osteodystrophy Diaphysis Camurati-Engelmann disease/Engelmann syndrome Metaphysis Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia · Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome · Osteopoikilosis · Osteopetrosis Other/ungrouped FLNB (Boomerang dysplasia) · Polyostotic fibrous dysplasia (McCune-Albright syndrome) Chondrodysplasia/ chondrodystrophy (including dwarfism) Osteochondroma osteochondromatosis (Hereditary multiple exostoses) Chondroma/enchondroma enchondromatosis (Ollier disease, Maffucci syndrome) Growth factor receptor FGFR2: Antley-Bixler syndrome FGFR3: Achondroplasia (Hypochondroplasia) · Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis (type 2) · Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia · Atelosteogenesis, type II · Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata · Conradi-Hünermann syndrome Other dwarfism Fibrochondrogenesis · Short rib-polydactyly syndrome (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosis Bone and cartilage navboxes: anat / physio / dev, noncongen / congen / neoplasia, symptoms+signs / eponymous signs, proc

v • d • e Congenital diaphragm and abdominal wall defects, abdominopelvic cavity (Q79.0-Q79.5, 756.6-756.7) Thoracic diaphragm Hernia: Congenital diaphragmatic hernia (Bochdalek hernia) Abdominal wall Omphalocele · Gastroschisis · Prune belly syndrome digestive system navs: anat of tract,glands,perit,diaphragm/physio/dev, noncongen/congen/congen of d+w/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of integument (Q80-Q82, 757.0-757.3) Skin disease/ genodermatosis Congenital ichthyosis AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis · Ichthyosis lamellaris (Harlequin type ichthyosis) Netherton syndrome · Zunich-Kaye syndrome · Sjögren-Larsson syndrome XR X-linked ichthyosis Epidermolysis bullosa Epidermolysis bullosa simplex · Junctional epidermolysis bullosa · Epidermolysis bullosa dystrophica Pigmentation disorder Incontinentia pigmenti  · Urticaria pigmentosa · Lelis syndrome DNA repair-deficiency disorder Bloom syndrome · Rothmund-Thomson syndrome · Xeroderma pigmentosum Ectodermal dysplasia Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay-Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis-van Creveld syndrome Hyperkeratosis/keratinopathy Meleda disease · Keratosis pilaris · Darier's disease · Dyskeratosis congenita · Lelis syndrome Nevus Capillary hemangioma · Port-wine stain (Nevus flammeus nuchae) Other Familial cutaneous papillomatosis · Kindler syndrome · cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis) · Hailey Hailey · Birthmark Elastic fiber/Connective tissue Cutis laxa (Gerodermia osteodysplastica) · Pseudoxanthoma elasticum integument, SF, LCT navs: anat/physio, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of skin appendages (Q84, 757.4-757.5) Nail disease Anonychia · Leukonychia · Pachyonychia congenita/Onychauxis · Koilonychia Hair disease keratin disease (Monilethrix) · Sabinas brittle hair syndrome · Pili annulati · Uncombable hair syndrome skin appendage navs: anat, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of the breast (Q83, 757.6) Breast Amastia · Polymastia · Micromastia Nipple Athelia · Polythelia breast navs: anat/physio, noncongen/congenital/neoplasia, proc

v • d • e Pathology: chromosome abnormalities (Q90-Q99 · 758) Autosomal Trisomies Down syndrome (21) · Edwards syndrome (18) · Patau syndrome (13) Trisomy 9 · Warkany syndrome 2 (8) · Trisomy 22/Cat eye syndrome (22) · Trisomy 16 Monosomies/deletions Wolf-Hirschhorn syndrome (4) · Cri du chat/Chromosome 5q deletion syndrome (5) · Williams syndrome (7) · Jacobsen syndrome (11) · Miller-Dieker syndrome/Smith-Magenis syndrome (17) · Di George's syndrome (22) genomic imprinting (Angelman syndrome/Prader-Willi syndrome (15)) X/Y linked Monosomy Turner syndrome (XO) Trisomy/tetrasomy, other karyotypes/mosaics Klinefelter's syndrome (47,XXY) · 48,XXYY · 49,XXXXY Triple X syndrome (47,XXX) · 48,XXXX · 49,XXXXX 47,XYY Translocations Leukemia/lymphoma Lymphoid Burkitt's lymphoma t(8 MYC;14 IGH) · Follicular lymphoma t(14 IGH;18 BCL2) · Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) · Anaplastic large cell lymphoma t(2 ALK;5 NPM1) · Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL; 22 BCR) · Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) · Acute promyelocytic leukemia t(15 PML,17 RARA) · Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1) Other Ewing's sarcoma t(11 FLI1; 22 EWS) · Synovial sarcoma t(x SYT;18 SSX) · Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB) · Myxoid liposarcoma t(12 DDIT3; 16 FUS) · Desmoplastic small round cell tumor t(11 WT1; 22 EWS) · Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1) Gonadal dysgenesis Mixed gonadal dysgenesis · XX gonadal dysgenesis Other Fragile X syndrome · Uniparental disomy

v • d • e Lymphatic disease: splenic disease (D73/Q89.0, 289.4-289.5/759.0) Acquired Acquired asplenia/hyposplenism · Wandering spleen · Splenomegaly (Banti's syndrome) Congenital Congenital asplenia/hyposplenism · Accessory spleen · Polysplenia lymphatic organ navs: anat, physio, lymphatic disease/splenic disease/thymus disorders/thymus neoplasia/vascular tumors, proc

v • d • e Congenital endocrine disease (Q89.1-Q89.2, 759.1-759.2) Pancreas see congenital digestive Hypothalamic/ pituitary axes +parathyroid Pituitary Congenital hypopituitarism Thyroid Persistent thyroglossal duct · Thyroglossal cyst Congenital hypothyroidism: Thyroid dysgenesis · Thyroid dyshormonogenesis (Pendred syndrome) Parathyroid Congenital absence of parathyroid Adrenal Absent adrenal gland Gonads see congenital reproductive endocrine navs: anat/physio/dev/hormones, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Twin conditions (Q89.3-Q89.4, 759.3-759.4) Zygosity Monozygotic  · Dizygotic  · Half twin Monochorionic twins Twin-to-twin transfusion syndrome  · Twin reversed arterial perfusion  · Monoamniotic twins Conjoined twins Parasitic twin (Craniopagus parasiticus, Fetus in fetu) Other Vanishing twin  · Chimerism

v • d • e Phakomatoses (Q85, 759.5-759.6) Neurofibromatosis Type I · Type II Angiomatosis Sturge-Weber syndrome · Von Hippel-Lindau disease Hamartoma Tuberous sclerosis · Hypothalamic hamartoma (Pallister-Hall syndrome) · Multiple hamartoma syndrome (Proteus syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos disease) Other Abdallat Davis Farrage syndrome · Ataxia telangiectasia · Incontinentia pigmenti · Peutz-Jeghers syndrome

v • d • e Congenital abnormality · multiple abnormalities (Q87, 759.7) Craniofacial Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) other: Möbius syndrome · Goldenhar syndrome · Cyclopia Short stature Aarskog-Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome Limbs Adducted thumb syndrome · Holt-Oram syndrome · Klippel-Trénaunay-Weber syndrome · Nail-patella syndrome · Rubinstein-Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome · ectromelia (Sirenomelia) · VACTERL association Overgrowth Beckwith-Wiedemann syndrome · Sotos syndrome · Weaver syndrome Laurence-Moon-Bardet-Biedl Bardet-Biedl syndrome · Laurence-Moon syndrome Combined/other, known locus 3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome) Combined/other, unknown locus Ablepharon macrostomia syndrome · Fountain syndrome · Urban-Rogers-Meyer syndrome · Yunis-Varon syndrome