Talk:International Classification of Diseases

From Embryology

Congenital malformations of the nervous system (Q00-Q07)

  • Q00 Anencephaly and similar malformations
    • Q00.0 Anencephaly, Acephaly, Acrania, Amyelencephaly, Hemianencephaly, Hemicephaly
    • Q00.1 Craniorachischisis
    • Q00.2 Iniencephaly
  • Q01 Encephalocele Incl.: encephalomyelocele, hydroencephalocele, hydromeningocele, cranial meningocele, cerebral meningoencephalocele Excl.: Meckel-Gruber syndrome (Q61.9)
    • Q01.0 Frontal encephalocele
    • Q01.1 Nasofrontal encephalocele
    • Q01.2 Occipital encephalocele
    • Q01.8 Encephalocele of other sites
    • Q01.9 Encephalocele, unspecified
  • Q02 Microcephaly Incl.: Hydromicrocephaly Micrencephalon Excl.: Meckel-Gruber syndrome (Q61.9)
  • Q03 Congenital hydrocephalus Incl.: hydrocephalus in newborn Excl.: Arnold-Chiari syndrome (Q07.0) hydrocephalus: acquired (G91.-) due to congenital toxoplasmosis (P37.1) with spina bifida (Q05.0-Q05.4)
    • Q03.0 Malformations of aqueduct of Sylvius Aqueduct of Sylvius: anomaly obstruction, congenital stenosis
    • Q03.1 Atresia of foramina of Magendie and Luschka Dandy-Walker syndrome
    • Q03.8 Other congenital hydrocephalus
    • Q03.9 Congenital hydrocephalus, unspecified
  • Q04 Other congenital malformations of brain Excl.: cyclopia (Q87.0) macrocephaly (Q75.3)
    • Q04.0 Congenital malformations of corpus callosum, Agenesis of corpus callosum
    • Q04.1 Arhinencephaly
    • Q04.2 Holoprosencephaly
    • Q04.3 Other reduction deformities of brain, Absence, Agenesis, Aplasia, Hypoplasia of part of brain, Agyria, Hydranencephaly, Lissencephaly, Microgyria, Pachygyria Excl.: congenital malformations of corpus callosum (Q04.0)
    • Q04.4 Septo-optic dysplasia
    • Q04.5 Megalencephaly
    • Q04.6 Congenital cerebral cysts, Porencephaly, Schizencephaly, Excl.: acquired porencephalic cyst (G93.0)
    • Q04.8 Other specified congenital malformations of brain, Macrogyria
    • Q04.9 Congenital malformation of brain, unspecified Congenital: anomaly, deformity, disease or lesion, multiple anomalies NOS of brain
  • Q05 Spina bifida Incl.: hydromeningocele (spinal), meningocele (spinal), meningomyelocele, myelocele, myelomeningocele, rachischisis, spina bifida (aperta)(cystica), syringomyelocele Excl.: Arnold-Chiari syndrome (Q07.0), spina bifida occulta (Q76.0)
    • Q05.0 Cervical spina bifida with hydrocephalus
    • Q05.1 Thoracic spina bifida with hydrocephalus Spina bifida: dorsal thoracolumbar with hydrocephalus
    • Q05.2 Lumbar spina bifida with hydrocephalus, Lumbosacral spina bifida with hydrocephalus
    • Q05.3 Sacral spina bifida with hydrocephalus
    • Q05.4 Unspecified spina bifida with hydrocephalus
    • Q05.5 Cervical spina bifida without hydrocephalus
    • Q05.6 Thoracic spina bifida without hydrocephalus Spina bifida: dorsal NOS, thoracolumbar NOS
    • Q05.7 Lumbar spina bifida without hydrocephalus, Lumbosacral spina bifida NOS
    • Q05.8 Sacral spina bifida without hydrocephalus
    • Q05.9 Spina bifida, unspecified
  • Q06 Other congenital malformations of spinal cord
    • Q06.0 Amyelia
    • Q06.1 Hypoplasia and dysplasia of spinal cord, Atelomyelia, Myelatelia, Myelodysplasia of spinal cord
    • Q06.2 Diastematomyelia
    • Q06.3 Other congenital cauda equina malformations
    • Q06.4 Hydromyelia Hydrorachis
    • Q06.8 Other specified congenital malformations of spinal cord
    • Q06.9 Congenital malformation of spinal cord, unspecified Congenital: anomaly, deformity, disease or lesion, NOS of spinal cord or meninges
  • Q07 Other congenital malformations of nervous system Excl.: familial dysautonomia [Riley-Day] (G90.1), neurofibromatosis (nonmalignant) (Q85.0)
    • Q07.0 Arnold-Chiari syndrome
    • Q07.8 Other specified congenital malformations of nervous system Agenesis of nerve, Displacement of brachial plexus, Jaw-winking syndrome, Marcus Gunn's syndrome
    • Q07.9 Congenital malformation of nervous system, unspecified Congenital: anomaly, deformity, disease or lesion, NOS of nervous system


Congenital malformations of the urinary system (Q60-Q64)

  • Q60 Renal agenesis and other reduction defects of kidney Incl.: atrophy of kidney: congenital infantile congenital absence of kidney
    • Q60.0 Renal agenesis, unilateral
    • Q60.1 Renal agenesis, bilateral
    • Q60.2 Renal agenesis, unspecified
    • Q60.3 Renal hypoplasia, unilateral
    • Q60.4 Renal hypoplasia, bilateral
    • Q60.5 Renal hypoplasia, unspecified
    • Q60.6 Potter's syndrome
  • Q61 Cystic kidney disease Excl.: acquired cyst of kidney (N28.1) Potter's syndrome (Q60.6)
    • Q61.0 Congenital single renal cyst Cyst of kidney (congenital)(single)
    • Q61.1 Polycystic kidney, autosomal recessive Polycystic kidney, infantile type
    • Q61.2 Polycystic kidney, autosomal dominant Polycystic kidney, adult type
    • Q61.3 Polycystic kidney, unspecified
    • Q61.4 Renal dysplasia Multicystic: dyplastic kidney kidney (developmental) kidney disease Renal dysplasia Excl.:polycystic kidney disease (Q61.1-Q61.3)
    • Q61.5 Medullary cystic kidney Sponge kidney NOS
    • Q61.8 Other cystic kidney diseases Fibrocystic: kidney Renal degeneration or disease
    • Q61.9 Cystic kidney disease, unspecified Meckel-Gruber syndrome
  • Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
    • Q62.0 Congenital hydronephrosis
    • Q62.1 Atresia and stenosis of ureter Congenital occlusion of: ureter ureteropelvic junction ureterovesical orifice Impervious ureter
    • Q62.2 Congenital megaloureter Congenital dilatation of ureter
    • Q62.3 Other obstructive defects of renal pelvis and ureter Congenital ureterocele
    • Q62.4 Agenesis of ureter Absent ureter
    • Q62.5 Duplication of ureter Accessory Double ureter
    • Q62.6 Malposition of ureter Deviation, Displacement, Ectopic Implantation, anomalous (of) ureter or ureteric orifice
    • Q62.7 Congenital vesico-uretero-renal reflux
    • Q62.8 Other congenital malformations of ureter Anomaly of ureter NOS
  • Q63 Other congenital malformations of kidney Excl.: congenital nephrotic syndrome (N04.-)
    • Q63.0 Accessory kidney
    • Q63.1 Lobulated, fused and horseshoe kidney
    • Q63.2 Ectopic kidney Congenital displaced kidney Malrotation of kidney
    • Q63.3 Hyperplastic and giant kidney
    • Q63.8 Other specified congenital malformations of kidney Congenital renal calculi
    • Q63.9 Congenital malformation of kidney, unspecified
  • Q64 Other congenital malformations of urinary system
    • Q64.0 Epispadias Excl.: hypospadias (Q54.-)
    • Q64.1 Exstrophy of urinary bladder

Ectopia vesicae Extroversion of bladder

    • Q64.2 Congenital posterior urethral valves
    • Q64.3 Other atresia and stenosis of urethra and bladder neck

Congenital: bladder neck obstruction stricture of: urethra urinary meatus vesicourethral orifice Impervious urethra

    • Q64.4 Malformation of urachus

Cyst of urachus Patent urachus Prolapse of urachus

    • Q64.5 Congenital absence of bladder and urethra
    • Q64.6 Congenital diverticulum of bladder
    • Q64.7 Other congenital malformations of bladder and urethra

Accessory: bladder urethra Congenital: hernia of bladder malformation of bladder or urethra NOS prolapse of: bladder (mucosa) urethra urinary meatus urethrorectal fistula Double: urethra urinary meatus

    • Q64.8 Other specified congenital malformations of urinary system
    • Q64.9 Congenital malformation of urinary system, unspecified

Congenital: anomaly deformity NOS of urinary system


Congenital malformations and deformations of the musculoskeletal system (Q65-Q79)

  • Q65 Congenital deformities of hip Excl.: clicking hip (R29.4)
  • Q65.0 Congenital dislocation of hip, unilateral
  • Q65.1 Congenital dislocation of hip, bilateral
  • Q65.2 Congenital dislocation of hip, unspecified
  • Q65.3 Congenital subluxation of hip, unilateral
  • Q65.4 Congenital subluxation of hip, bilateral
  • Q65.5 Congenital subluxation of hip, unspecified
  • Q65.6 Unstable hip Dislocatable hip Subluxatable hip
  • Q65.8 Other congenital deformities of hip Anteversion of femoral neck Congenital acetabular dysplasia Congenital coxa: valga vara
  • Q65.9 Congenital deformity of hip, unspecified
  • Q66 Congenital deformities of feet Excl.: reduction defects of feet (Q72.-) valgus deformities (acquired) (M21.0) varus deformities (acquired) (M21.1)
  • Q66.0 Talipes equinovarus
  • Q66.1 Talipes calcaneovarus
  • Q66.2 Metatarsus varus
  • Q66.3 Other congenital varus deformities of feet Hallux varus, congenital
  • Q66.4 Talipes calcaneovalgus
  • Q66.5 Congenital pes planus Flat foot: congenital rigid spastic (everted)
  • Q66.6 Other congenital valgus deformities of feet Metatarsus valgus
  • Q66.7 Pes cavus
  • Q66.8 Other congenital deformities of feet Clubfoot NOS Hammer toe, congenital Talipes: NOS asymmetric Tarsal coalition Vertical talus
  • Q66.9 Congenital deformity of feet, unspecified
  • Q67 Congenital musculoskeletal deformities of head, face, spine and chest Excl.: congenital malformation syndromes classified to Q87.- Potter's syndrome (Q60.6)
  • Q67.0 Facial asymmetry
  • Q67.1 Compression facies
  • Q67.2 Dolichocephaly
  • Q67.3 Plagiocephaly
  • Q67.4 Other congenital deformities of skull, face and jaw Depressions in skull Deviation of nasal septum, congenital Hemifacial atrophy or hypertrophy Squashed or bent nose, congenital Excl.: dentofacial anomalies [including malocclusion] (K07.-) syphilitic saddle nose (A50.5)
  • Q67.5 Congenital deformity of spine Congenital scoliosis: NOS postural Excl.: infantile idiopathic scoliosis (M41.0) scoliosis due to congenital bony malformation (Q76.3)
  • Q67.6 Pectus excavatum Congenital funnel chest
  • Q67.7 Pectus carinatum Congenital pigeon chest
  • Q67.8 Other congenital deformities of chest Congenital deformity of chest wall NOS
  • Q68 Other congenital musculoskeletal deformities Excl.: reduction defects of limb(s) (Q71-Q73)
  • Q68.0 Congenital deformity of sternocleidomastoid muscle Congenital (sternomastoid) torticollis Contracture of sternocleidomastoid (muscle) Sternomastoid tumour (congenital)
  • Q68.1 Congenital deformity of hand Congenital clubfinger Spade-like hand (congenital)
  • Q68.2 Congenital deformity of knee Congenital: dislocation of knee genu recurvatum
  • Q68.3 Congenital bowing of femur Excl.: anteversion of femur (neck) (Q65.8)
  • Q68.4 Congenital bowing of tibia and fibula
  • Q68.5 Congenital bowing of long bones of leg, unspecified
  • Q68.8 Other specified congenital musculoskeletal deformities Congenital: deformity of: clavicle elbow forearm scapula dislocation of: elbow shoulder
  • Q69 Polydactyly
  • Q69.0 Accessory finger(s)
  • Q69.1 Accessory thumb(s)
  • Q69.2 Accessory toe(s) Accessory hallux
  • Q69.9 Polydactyly, unspecified Supernumerary digit(s) NOS
  • Q70 Syndactyly
  • Q70.0 Fused fingers Complex syndactyly of fingers with synostosis
  • Q70.1 Webbed fingers Simple syndactyly of fingers without synostosis
  • Q70.2 Fused toes Complex syndactyly of toes with synostosis
  • Q70.3 Webbed toes Simple syndactyly of toes without synostosis
  • Q70.4 Polysyndactyly
  • Q70.9 Syndactyly, unspecified Symphalangy NOS
  • Q71 Reduction defects of upper limb
  • Q71.0 Congenital complete absence of upper limb(s)
  • Q71.1 Congenital absence of upper arm and forearm with hand present
  • Q71.2 Congenital absence of both forearm and hand
  • Q71.3 Congenital absence of hand and finger(s)
  • Q71.4 Longitudinal reduction defect of radius Clubhand (congenital) Radial clubhand
  • Q71.5 Longitudinal reduction defect of ulna
  • Q71.6 Lobster-claw hand
  • Q71.8 Other reduction defects of upper limb(s) Congenital shortening of upper limb(s)
  • Q71.9 Reduction defect of upper limb, unspecified
  • Q72 Reduction defects of lower limb
  • Q72.0 Congenital complete absence of lower limb(s)
  • Q72.1 Congenital absence of thigh and lower leg with foot present
  • Q72.2 Congenital absence of both lower leg and foot
  • Q72.3 Congenital absence of foot and toe(s)
  • Q72.4 Longitudinal reduction defect of femur Proximal femoral focal deficiency
  • Q72.5 Longitudinal reduction defect of tibia
  • Q72.6 Longitudinal reduction defect of fibula
  • Q72.7 Split foot
  • Q72.8 Other reduction defects of lower limb(s) Congenital shortening of lower limb(s)
  • Q72.9 Reduction defect of lower limb, unspecified
  • Q73 Reduction defects of unspecified limb
  • Q73.0 Congenital absence of unspecified limb(s) Amelia NOS
  • Q73.1 Phocomelia, unspecified limb(s) Phocomelia NOS
  • Q73.8 Other reduction defects of unspecified limb(s) Longitudinal reduction deformity of unspecified limb(s) Ectromelia NOS Hemimelia NOS Reduction defect of limb(s) NOS
  • Q74 Other congenital malformations of limb(s) Excl.: polydactyly (Q69.-) reduction defect of limb (Q71-Q73) syndactyly (Q70.-)
  • Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle Accessory carpal bones Cleidocranial dysostosis Congenital pseudarthrosis of clavicle Macrodactylia (fingers) Madelung's deformity Radioulnar synostosis Sprengel's deformity Triphalangeal thumb
  • Q74.1 Congenital malformation of knee Congenital: absence of patella dislocation of patella genu: valgum varum Rudimentary patella Excl.: congenital: dislocation of knee (Q68.2) genu recurvatum (Q68.2) nail patella syndrome (Q87.2)
  • Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle Congenital: fusion of sacroiliac joint malformation (of): ankle (joint) sacroiliac (joint) Excl.: anteversion of femur (neck) (Q65.8)
  • Q74.3 Arthrogryposis multiplex congenita
  • Q74.8 Other specified congenital malformations of limb(s)
  • Q74.9 Unspecified congenital malformation of limb(s) Congenital anomaly of limb(s) NOS
  • Q75 Other congenital malformations of skull and face bones Excl.: congenital malformation of face NOS (Q18.-) congenital malformation syndromes classified to Q87.- dentofacial anomalies [including malocclusion] (K07.-) musculoskeletal deformities of head and face (Q67.0-Q67.4) skull defects associated with congenital anomalies of brain such as: anencephaly (Q00.0) encephalocele (Q01.-) hydrocephalus (Q03.-) microcephaly (Q02)
  • Q75.0 Craniosynostosis Acrocephaly Imperfect fusion of skull Oxycephaly Trigonocephaly
  • Q75.1 Craniofacial dysostosis Crouzon's disease
  • Q75.2 Hypertelorism
  • Q75.3 Macrocephaly
  • Q75.4 Mandibulofacial dysostosis Syndrome: Franceschetti Treacher-Collins
  • Q75.5 Oculomandibular dysostosis
  • Q75.8 Other specified congenital malformations of skull and face bones Absence of skull bone, congenital Congenital deformity of forehead Platybasia
  • Q75.9 Congenital malformation of skull and face bones, unspecified Congenital anomaly of: face bones NOS skull NOS
  • Q76 Congenital malformations of spine and bony thorax Excl.: congenital musculoskeletal deformities of spine and chest (Q67.5-Q67.8)
  • Q76.0 Spina bifida occulta Excl.: meningocele (spinal) (Q05.-) spina bifida (aperta)(cystica) (Q05.-)
  • Q76.1 Klippel-Feil syndrome Cervical fusion syndrome
  • Q76.2 Congenital spondylolisthesis Congenital spondylolysis Excl.: spondylolisthesis (acquired) (M43.1) spondylolysis (acquired) (M43.0)
  • Q76.3 Congenital scoliosis due to congenital bony malformation Hemivertebra fusion or failure of segmentation with scoliosis
  • Q76.4 Other congenital malformations of spine, not associated with scoliosis Congenital: absence of vertebra fusion of spine kyphosis lordosis malformation of lumbosacral (joint) (region) Hemivertebra Malformation of spine Platyspondylisis Supernumerary vertebra unspecified or not associated with scoliosis
  • Q76.5 Cervical rib Supernumerary rib in cervical region
  • Q76.6 Other congenital malformations of ribs Accessory rib Congenital: absence of rib fusion of ribs malformation of ribs NOS Excl.: short rib syndrome (Q77.2)
  • Q76.7 Congenital malformation of sternum Congenital absence of sternum Sternum bifidum
  • Q76.8 Other congenital malformations of bony thorax
  • Q76.9 Congenital malformation of bony thorax, unspecified
  • Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine Excl.: mucopolysaccharidosis (E76.0-E76.3)
  • Q77.0 Achondrogenesis Hypochondrogenesis
  • Q77.1 Thanatophoric short stature
  • Q77.2 Short rib syndrome Asphyxiating thoracic dysplasia [Jeune]
  • Q77.3 Chondrodysplasia punctata
  • Q77.4 Achondroplasia Hypochondroplasia Osteosclerosis congenita
  • Q77.5 Dystrophic dysplasia
  • Q77.6 Chondroectodermal dysplasia Ellis-van Creveld syndrome
  • Q77.7 Spondyloepiphyseal dysplasia
  • Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
  • Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
  • Q78 Other osteochondrodysplasias
  • Q78.0 Osteogenesis imperfecta Fragilitas ossium Osteopsathyrosis
  • Q78.1 Polyostotic fibrous dysplasia Albright(-McCune)(-Sternberg) syndrome
  • Q78.2 Osteopetrosis Albers-Schönberg syndrome
  • Q78.3 Progressive diaphyseal dysplasia Camurati-Engelmann syndrome
  • Q78.4 Enchondromatosis Maffucci's syndrome Ollier's disease
  • Q78.5 Metaphyseal dysplasia Pyle's syndrome
  • Q78.6 Multiple congenital exostoses Diaphyseal aclasis
  • Q78.8 Other specified osteochondrodysplasias Osteopoikilosis
  • Q78.9 Osteochondrodysplasia, unspecified Chondrodystrophy NOS Osteodystrophy NOS
  • Q79 Congenital malformations of the musculoskeletal system, not elsewhere classified Excl.: congenital (sternomastoid) torticollis (Q68.0)
  • Q79.0 Congenital diaphragmatic hernia Excl.: congenital hiatus hernia (Q40.1)
  • Q79.1 Other congenital malformations of diaphragm Absence of diaphragm Congenital malformation of diaphragm NOS Eventration of diaphragm
  • Q79.2 Exomphalos Omphalocele Excl.: umbilical hernia (K42.-)
  • Q79.3 Gastroschisis
  • Q79.4 Prune belly syndrome
  • Q79.5 Other congenital malformations of abdominal wall Excl.: umbilical hernia (K42.-)
  • Q79.6 Ehlers-Danlos syndrome
  • Q79.8 Other congenital malformations of musculoskeletal system Absence of: muscle tendon Accessory muscle Amyotrophia congenita Congenital: constricting bands shortening of tendon Poland's syndrome
  • Q79.9 Congenital malformation of musculoskeletal system, unspecified Congenital: anomaly NOS deformity NOS of musculoskeletal system NOS

Other congenital malformations (Q80-Q89)

  • Q80 Congenital ichthyosis Excl.: Refsum's disease (G60.1)
    • Q80.0 Ichthyosis vulgaris
    • Q80.1 X-linked ichthyosis
    • Q80.2 Lamellar ichthyosis Collodion baby
    • Q80.3 Congenital bullous ichthyosiform erythroderma
    • Q80.4 Harlequin fetus
    • Q80.8 Other congenital ichthyosis
    • Q80.9 Congenital ichthyosis, unspecified
  • Q81 Epidermolysis bullosa
    • Q81.0 Epidermolysis bullosa simplex Excl.: Cockayne's syndrome (Q87.1)
    • Q81.1 Epidermolysis bullosa letalis Herlitz' syndrome
    • Q81.2 Epidermolysis bullosa dystrophica
    • Q81.8 Other epidermolysis bullosa
    • Q81.9 Epidermolysis bullosa, unspecified
  • Q82 Other congenital malformations of skin Excl.: acrodermatitis enteropathica (E83.2) congenital erythropoietic porphyria (E80.0) pilonidal cyst or sinus (L05.-) Sturge-Weber(-Dimitri) syndrome (** Q85.8)
    • Q82.0 Hereditary lymphoedema
    • Q82.1 Xeroderma pigmentosum
    • Q82.2 Mastocytosis Urticaria pigmentosa Excl.: malignant mastocytosis (C96.2)
    • Q82.3 Incontinentia pigmenti
    • Q82.4 Ectodermal dysplasia (anhidrotic) Excl.: Ellis-van Creveld syndrome (** Q77.6)
    • Q82.5 Congenital non-neoplastic naevus Birthmark NOS

Naevus: flammeus portwine sanguineous strawberry vascular NOS verrucous Excl.: café au lait spots (L81.3) lentigo (L81.4) naevus: NOS (D22.-) araneus (I78.1) melanocytic (D22.-) pigmented (D22.-) spider (I78.1) stellar (I78.1)

    • Q82.8 Other specified congenital malformations of skin Abnormal palmar creases Accessory skin tags

Benign familial pemphigus [Hailey-Hailey] Cutis laxa (hyperelastica) Dermatoglyphic anomalies Inherited keratosis palmaris et plantaris Keratosis follicularis [Darier-White] Excl.: Ehlers-Danlos syndrome (** Q79.6)

    • Q82.9 Congenital malformation of skin, unspecified
  • Q83 Congenital malformations of breast Excl.: absence of pectoral muscle (Q79.8)
    • Q83.0 Congenital absence of breast with absent nipple
    • Q83.1 Accessory breast Supernumerary breast
    • Q83.2 Absent nipple
    • Q83.3 Accessory nipple Supernumerary nipple
    • Q83.8 Other congenital malformations of breast Hypoplasia of breast
    • Q83.9 Congenital malformation of breast, unspecified
  • Q84 Other congenital malformations of integument
    • Q84.0 Congenital alopecia Congenital atrichosis
    • Q84.1 Congenital morphological disturbances of hair, not elsewhere classified Beaded hair, Monilethrix, Pili annulati Excl.: Menkes' kinky hair syndrome (E83.0)
    • Q84.2 Other congenital malformations of hair Congenital: hypertrichosis, malformation of hair NOS, Persistent lanugo
    • Q84.3 Anonychia Excl.: nail patella syndrome (Q87.2)
    • Q84.4 Congenital leukonychia
  • Q84.5 Enlarged and hypertrophic nails, Congenital onychauxis, Pachyonychia
    • Q84.6 Other congenital malformations of nails Congenital: club nail, koilonychia, malformation of nail NOS
    • Q84.8 Other specified congenital malformations of integument Aplasia cutis congenita
    • Q84.9 Congenital malformation of integument, unspecified Congenital: anomaly NOS, deformity NOS, of integument NOS
  • Q85 Phakomatoses, not elsewhere classified Excl.: ataxia telangiectasia [Louis-Bar] (G11.3) familial dysautonomia [Riley-Day] (G90.1)
    • Q85.0 Neurofibromatosis (nonmalignant) Von Recklinghausen's disease
    • Q85.1 Tuberous sclerosis Bourneville's disease Epiloia
    • Q85.8

Other phakomatoses, not elsewhere classified Syndrome: Peutz-Jeghers Sturge-Weber(-Dimitri) von Hippel-Lindau Excl.: Meckel-Gruber syndrome (** Q61.9)

    • Q85.9

Phakomatosis, unspecified Hamartosis NOS

  • Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified Excl.: iodine-deficiency-related hypothyroidism (E00-E02) nonteratogenic effects of substances transmitted via placenta or breast milk (P04.-)
    • Q86.0 Fetal alcohol syndrome (dysmorphic)
    • Q86.1 Fetal hydantoin syndrome Meadow's syndrome
    • Q86.2 Dysmorphism due to warfarin
    • Q86.8 Other congenital malformation syndromes due to known exogenous causes
  • Q87 Other specified congenital malformation syndromes affecting multiple systems
    • Q87.0 Congenital malformation syndromes predominantly affecting facial appearance Acrocephalopolysyndactyly Acrocephalosyndactyly [Apert]

Cryptophthalmos syndrome Cyclopia Syndrome: Goldenhar Moebius oro-facial-digital Robin Whistling face

    • Q87.1

Congenital malformation syndromes predominantly associated with short stature Syndrome: Aarskog Cockayne De Lange Dubowitz Noonan Prader-Willi Robinow-Silverman-Smith Russell-Silver Seckel Smith-Lemli-Opitz Excl.: Ellis-van Creveld syndrome (** Q77.6)

    • Q87.2

Congenital malformation syndromes predominantly involving limbs Syndrome: Holt-Oram Klippel-Trénaunay-Weber nail patella Rubinstein-Taybi sirenomelia thrombocytopenia with absent radius [TAR] VATER

    • Q87.3 Congenital malformation syndromes involving early overgrowth

Syndrome: Beckwith-Wiedemann Sotos Weaver

    • Q87.4 Marfan's syndrome
    • Q87.5 Other congenital malformation syndromes with other skeletal changes
    • Q87.8 Other specified congenital malformation syndromes, not elsewhere classified

Syndrome: Alport Laurence-Moon(-Bardet)-Biedl Zellweger

  • Q89 Other congenital malformations, not elsewhere classified
    • Q89.0

Congenital malformations of spleen Asplenia (congenital) Congenital splenomegaly Excl.: isomerism of atrial appendages (with asplenia or polysplenia) (** Q20.6)

    • Q89.1

Congenital malformations of adrenal gland Excl.: congenital adrenal hyperplasia (E25.0)

    • Q89.2

Congenital malformations of other endocrine glands Congenital malformation of parathyroid or thyroid gland Persistent thyroglossal duct Thyroglossal cyst

    • Q89.3

Situs inversus Dextrocardia with situs inversus Mirror-image atrial arrangement with situs inversus Situs inversus or transversus: abdominalis thoracis Transposition of viscera: abdominal thoracic Excl.: dextrocardia NOS (Q24.0) laevocardia (Q24.1)

    • Q89.4 Conjoined twins Craniopagus

Dicephaly Double monster Pygopagus Thoracopagus

    • Q89.7 Multiple congenital malformations, not elsewhere classified Monster NOS Multiple congenital: anomalies NOS deformities NOS Excl.: congenital malformation syndromes affecting multiple systems (Q87.-)
    • Q89.8 Other specified congenital malformations
    • Q89.9 Congenital malformation, unspecified Congenital: anomaly NOS deformity NOS

Chromosomal abnormalities, not elsewhere classified (Q90-Q99)

  • Q90 Down's syndrome
    • Q90.0 Trisomy 21, meiotic nondisjunction
    • Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
    • Q90.2 Trisomy 21, translocation
    • Q90.9 Down's syndrome, unspecified Trisomy 21 NOS
  • Q91 Edwards' syndrome and Patau's syndrome
    • Q91.0 Trisomy 18, meiotic nondisjunction
    • Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
    • Q91.2 Trisomy 18, translocation ** Q91.3 Edwards' syndrome, unspecified
    • Q91.4 Trisomy 13, meiotic nondisjunction
    • Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
    • Q91.6 Trisomy 13, translocation
    • Q91.7 Patau's syndrome, unspecified
  • Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified Incl.: unbalanced translocations and insertions Excl.: trisomies of chromosomes 13, 18, 21 (Q90-Q91)
    • Q92.0 Whole chromosome trisomy, meiotic nondisjunction
    • Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
    • Q92.2 Major partial trisomy Whole arm or more duplicated.
    • Q92.3 Minor partial trisomy Less than whole arm duplicated.
    • Q92.4 Duplications seen only at prometaphase
    • Q92.5 Duplications with other complex rearrangements
    • Q92.6 Extra marker chromosomes
    • Q92.7 Triploidy and polyploidy
    • Q92.8 Other specified trisomies and partial trisomies of autosomes
    • Q92.9 Trisomy and partial trisomy of autosomes, unspecified
  • Q93 Monosomies and deletions from the autosomes, not elsewhere classified
    • Q93.0 Whole chromosome monosomy, meiotic nondisjunction
    • Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
    • Q93.2 Chromosome replaced with ring or dicentric
    • Q93.3 Deletion of short arm of chromosome 4 Wolff-Hirschorn syndrome
    • Q93.4 Deletion of short arm of chromosome 5 Cri-du-chat syndrome
    • Q93.5 Other deletions of part of a chromosome Angelman syndrome
    • Q93.6 Deletions seen only at prometaphase
    • Q93.7 Deletions with other complex rearrangements
    • Q93.8 Other deletions from the autosomes
    • Q93.9 Deletion from autosomes, unspecified
  • Q95 Balanced rearrangements and structural markers, not elsewhere classified Incl.: Robertsonian and balanced reciprocal translocations and insertions
    • Q95.0 Balanced translocation and insertion in normal individual
    • Q95.1 Chromosome inversion in normal individual
    • Q95.2 Balanced autosomal rearrangement in abnormal individual
    • Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
    • Q95.4 Individuals with marker heterochromatin
    • Q95.5 Individuals with autosomal fragile site
    • Q95.8 Other balanced rearrangements and structural markers
    • Q95.9 Balanced rearrangement and structural marker, unspecified
  • Q96 Turner's syndrome Excl.: Noonan's syndrome (Q87.1)
    • Q96.0 Karyotype 45,X
    • Q96.1 Karyotype 46,X iso (XQ)
    • Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (XQ)
    • Q96.3 Mosaicism, 45,X/46,XX or XY
    • Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
    • Q96.8 Other variants of Turner's syndrome
    • Q96.9 Turner's syndrome, unspecified
  • Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified Excl.: Turner's syndrome (Q96.-)
    • Q97.0 Karyotype 47,XXX
    • Q97.1 Female with more than three X chromosomes
    • Q97.2 Mosaicism, lines with various numbers of X chromosomes
    • Q97.3 Female with 46,XY karyotype
    • Q97.8 Other specified sex chromosome abnormalities, female phenotype
    • Q97.9 Sex chromosome abnormality, female phenotype, unspecified
  • Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
    • Q98.0 Klinefelter's syndrome karyotype 47,XXY
    • Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
    • Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
    • Q98.3 Other male with 46,XX karyotype
    • Q98.4 Klinefelter's syndrome, unspecified
    • Q98.5 Karyotype 47,XYY
    • Q98.6 Male with structurally abnormal sex chromosome
    • Q98.7 Male with sex chromosome mosaicism
    • Q98.8 Other specified sex chromosome abnormalities, male phenotype
    • Q98.9 Sex chromosome abnormality, male phenotype, unspecified
  • Q99 Other chromosome abnormalities, not elsewhere classified
    • Q99.0 Chimera 46,XX/46,XY Chimera 46,XX/46,XY true hermaphrodite
    • Q99.1 46,XX true hermaphrodite 46,XX with streak gonads 46,XY with streak gonads Pure gonadal dysgenesis
    • Q99.2 Fragile X chromosome Fragile X syndrome
    • Q99.8 Other specified chromosome abnormalities
    • Q99.9 Chromosomal abnormality, unspecified
Retrieved from ‘https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:International_Classification_of_Diseases&oldid=95289’
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