International Classification of Diseases - XVII Congenital Malformations

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Introduction

The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology, health management and clinical purposes. This includes the analysis of the general health situation of population groups. It is used to monitor the incidence and prevalence of diseases and other health problems. Within this classification "congenital malformations, deformations and chromosomal abnormalities" are (Q00-Q99) but excludes "inborn errors of metabolism" (E70-E90).

(ICD) ICD-10 was endorsed by the Forty-third World Health Assembly in May 1990 and came into use in WHO Member States as from 1994. The classification is the latest in a series which has its origins in the 1850s. The first edition, known as the International List of Causes of Death, was adopted by the International Statistical Institute in 1893. WHO took over the responsibility for the ICD at its creation in 1948 when the Sixth Revision, which included causes of morbidity for the first time, was published. The World Health Assembly adopted in 1967 the WHO Nomenclature Regulations that stipulate use of ICD in its most current revision for mortality and morbidity statistics by all Member States.

The ICD is the international standard diagnostic classification for all general epidemiological, many health management purposes and clinical use.

ICD-10


International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) Version for 2010

Note - this is not a full listing of the classifications, only the major sub-headings that relate to development (there are additional sub-sub-headings not yet listed here).

Chapter XVII Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)

Links: Chapter XVII

Excludes inborn errors of metabolism (E70-E90)

Congenital malformations of the nervous system (Q00-Q07)

Congenital malformations of the nervous system (Q00-Q07)

  • Q00 Anencephaly and similar malformations
  • Q01 Encephalocele Incl.: encephalomyelocele, hydroencephalocele, hydromeningocele, cranial meningocele, cerebral meningoencephalocele Excl.: Meckel-Gruber syndrome (Q61.9)
  • 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)
  • Q04 Other congenital malformations of brain Excl.: cyclopia (Q87.0) macrocephaly (Q75.3)
  • 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)
  • Q06 Other congenital malformations of spinal cord
  • Q07 Other congenital malformations of nervous system Excl.: familial dysautonomia [Riley-Day] (G90.1), neurofibromatosis (nonmalignant) (Q85.0)
Links: Neural System - Abnormalities | Q00-Q07

Congenital malformations of eye, ear, face and neck (Q10-Q18)

Excl.: cleft lip and cleft palate (Q35-Q37) congenital malformation of: cervical spine (Q05.0, Q05.5, Q67.5, Q76.0-Q76.4) larynx (Q31.-) lip NEC (Q38.0) nose (Q30.-) parathyroid gland (Q89.2) thyroid gland (Q89.2)

  • Q10 Congenital malformations of eyelid, lacrimal apparatus and orbit Excl.: cryptophthalmos: NOS (Q11.2) syndrome (Q87.0)
  • Q11 Anophthalmos, microphthalmos and macrophthalmos
  • Q12 Congenital lens malformations
  • Q13 Congenital malformations of anterior segment of eye
  • Q14 Congenital malformations of posterior segment of eye
  • Q15 Other congenital malformations of eye Excl.: congenital nystagmus (H55) ocular albinism (E70.3) retinitis pigmentosa (H35.5)
  • Q16 Congenital malformations of ear causing impairment of hearing Excl.: congenital deafness (H90.-)
  • Q17 Other congenital malformations of ear Excl.: preauricular sinus (Q18.1)
  • Q18 Other congenital malformations of face and neck Excl.: cleft lip and cleft palate (Q35-Q37) conditions classified to


Links: Q10-Q18 - Congenital malformations of eye, ear, face and neck.

Congenital malformations of the circulatory system (Q20-Q28)

  • Q20 Congenital malformations of cardiac chambers and connections Excl.: dextrocardia with situs inversus (Q89.3) mirror-image atrial arrangement with situs inversus (Q89.3)
  • Q21 Congenital malformations of cardiac septa Excl.: acquired cardiac septal defect (I51.0)
  • Q22 Congenital malformations of pulmonary and tricuspid valves
  • Q23 Congenital malformations of aortic and mitral valves
  • Q24 Other congenital malformations of heart Excl.: endocardial fibroelastosis (I42.4)
  • Q25 Congenital malformations of great arteries
  • Q26 Congenital malformations of great veins
  • Q27 Other congenital malformations of peripheral vascular system Excl.: anomalies of: cerebral and precerebral vessels (Q28.0-Q28.3) coronary vessels (Q24.5) pulmonary artery (Q25.5-Q25.7) congenital retinal aneurysm (Q14.1) haemangioma and lymphangioma (D18.-)
  • Q28 Other congenital malformations of circulatory system Excl.: congenital aneurysm: NOS (Q27.8) coronary (Q24.5) peripheral (Q27.8) pulmonary (Q25.7) retinal (Q14.1) ruptured: cerebral arteriovenous malformation (I60.8) malformation of precerebral vessels (I72.-)


Links: Cardiovascular System - Abnormalities | Q20-Q28 - Congenital malformations of the circulatory system.

Congenital malformations of the respiratory system (Q30-Q34)

  • Q30 Congenital malformations of nose Excl.: congenital deviation of nasal septum (Q67.4)
  • Q31 Congenital malformations of larynx Excl.: congenital (laryngeal) stridor NOS (P28.8)
  • Q32 Congenital malformations of trachea and bronchus Excl.: congenital bronchiectasis (Q33.4)
  • Q33 Congenital malformations of lung
  • Q34 Other congenital malformations of respiratory system
Links: Q30-Q34 - Congenital malformations of the respiratory system.

Cleft lip and cleft palate (Q35-Q37)

Use additional code (Q30.2), if desired, to identify associated malformations of the nose. Excl.: Robin's syndrome (Q87.0)

  • Q35 Cleft palate Incl.: fissure of palate palatoschisis Excl.: cleft palate with cleft lip (Q37.-)
  • Q36 Cleft lip Incl.: cheiloschisis congenital fissure of lip harelip labium leporinum Excl.: cleft lip with cleft palate (Q37.-)
  • Q37.0 Cleft hard palate with bilateral cleft lip
Links: Q35-Q37 - Cleft lip and cleft palate.

Other congenital malformations of the digestive system (Q38-Q45)

  • Q38 Other congenital malformations of tongue, mouth and pharynx Excl.: macrostomia (Q18.4) microstomia (Q18.5)
  • Q39 Congenital malformations of oesophagus
  • Q40 Other congenital malformations of upper alimentary tract
  • Q41 Congenital absence, atresia and stenosis of small intestine Incl.: congenital obstruction, occlusion and stricture of small intestine or intestine NOS Excl.: meconium ileus (E84.1)
  • Q42 Congenital absence, atresia and stenosis of large intestine Incl.: congenital obstruction, occlusion and stricture of large intestine
  • Q43 Other congenital malformations of intestine
  • Q44 Congenital malformations of gallbladder, bile ducts and liver
  • Q45 Other congenital malformations of digestive system Excl.: congenital: diaphragmatic hernia (Q79.0) hiatus hernia (Q40.1)


Links: Q38-Q45 - Other congenital malformations of the digestive system.

Congenital malformations of genital organs (50-56)

Excl.: androgen resistance syndrome (E34.5) syndromes associated with anomalies in the number and form of chromosomes (90-99) testicular feminization syndrome (E34.5)

  • Q50 Congenital malformations of ovaries, fallopian tubes and broad ligaments
  • Q51 Congenital malformations of uterus and cervix
  • Q52 Other congenital malformations of female genitalia
  • Q53 Undescended testicle
  • Q54 Hypospadias Excl.: epispadias (64.0)
  • Q55 Other congenital malformations of male genital organs Excl.: congenital hydrocele (P83.5) hypospadias (54.-)
  • Q56 Indeterminate sex and pseudohermaphroditism Excl.: pseudohermaphroditism: female, with adrenocortical disorder (E25.-) male, with androgen resistance (E34.5) with specified chromosomal anomaly (96-99)
Links: Q50-Q56 - Congenital malformations of genital organs.

Congenital malformations of the urinary system (60-64)

  • Q60 Renal agenesis and other reduction defects of kidney Incl.: atrophy of kidney: congenital infantile congenital absence of kidney
  • Q61 Cystic kidney disease Excl.: acquired cyst of kidney (N28.1) Potter's syndrome (60.6)
  • Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
  • Q63 Other congenital malformations of kidney Excl.: congenital nephrotic syndrome (N04.-)
  • Q64 Other congenital malformations of urinary system


Links: Q60-Q64 - Congenital malformations of the urinary system.

Congenital malformations and deformations of the musculoskeletal system

  • Q65 Congenital deformities of hip Excl.: clicking hip (R29.4)
  • Q66 Congenital deformities of feet Excl.: reduction defects of feet (Q72.-) valgus deformities (acquired) (M21.0) varus deformities (acquired) (M21.1)
  • Q67 Congenital musculoskeletal deformities of head, face, spine and chest Excl.: congenital malformation syndromes classified to Q87.- Potter's syndrome (Q60.6)
  • Q68 Other congenital musculoskeletal deformities Excl.: reduction defects of limb(s) (Q71-Q73)
  • Q69 Polydactyly
  • Q70 Syndactyly
  • Q71 Reduction defects of upper limb
  • Q72 Reduction defects of lower limb
  • Q73 Reduction defects of unspecified limb
  • Q74 Other congenital malformations of limb(s) Excl.: polydactyly (Q69.-) reduction defect of limb (Q71-Q73) syndactyly (Q70.-)
  • 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)
  • Q76 Congenital malformations of spine and bony thorax Excl.: congenital musculoskeletal deformities of spine and chest (Q67.5-Q67.8)
  • Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine Excl.: mucopolysaccharidosis (E76.0-E76.3)
  • Q78 Other osteochondrodysplasias
  • Q79 Congenital malformations of the musculoskeletal system, not elsewhere classified Excl.: congenital (sternomastoid) torticollis (Q68.0)


Links: Q65-Q79 - Congenital malformations and deformations of the musculoskeletal system.

Other congenital malformations

Links: Q80-Q89- Other congenital malformations.

Chromosomal abnormalities, not elsewhere classified

  • Q90 Down's syndrome
  • Q91 Edwards' syndrome and Patau's syndrome
  • 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)
  • Q93 Monosomies and deletions from the autosomes, not elsewhere classified
  • Q95 Balanced rearrangements and structural markers, not elsewhere classified Incl.: Robertsonian and balanced reciprocal translocations and insertions
  • Q96 Turner's syndrome Excl.: Noonan's syndrome (Q87.1)
  • Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified Excl.: Turner's syndrome (Q96.-)
  • Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
  • Q99 Other chromosome abnormalities, not elsewhere classified


Links: Q90-Q99 - Chromosomal abnormalities, not elsewhere classified.

Chapter XVI Certain conditions originating in the perinatal period (P00-P96)

Includes conditions that have their origin in the perinatal period even though death or morbidity occurs later.

Excludes congenital malformations, deformations and chromosomal abnormalities (Q00-Q99); endocrine, nutritional and metabolic diseases (E00-E90); injury, poisoning and certain other consequences of external causes (S00-T98); neoplasms (C00-D48); tetanus neonatorum (A33)


  • P00-P04 - Fetus and newborn affected by maternal factors and by complications of pregnancy, labour and delivery.
  • P05-P08 - Disorders related to length of gestation and fatal growth.
  • P10-P15 - Birth trauma.
  • P20-P29 - Respiratory and cardiovascular disorders specific to the perinatal period.
  • P35-P39 - Infections specific to the perinatal period.
  • P50-P61 - Haemorrhagic and haematological disorders of fetus and newborn.
  • P70-P74 - Transitory endocrine and metabolic disorders specific to fetus and newborn.
  • P75-P78 - Digestive system disorders of fetus and newborn.
  • P80-P83 - Conditions involving the integument and temperature regulation of fetus and newborn.
  • P90-P96 - Other disorders originating in the perinatal period.


Links: Chapter XVI

Chapter XV Pregnancy, childbirth and the puerperium (O00-O99)

The codes included in this chapter are to be used for conditions related to or aggravated by the pregnancy, childbirth or by the puerperium (maternal causes or obstetric causes)

Excludes Certain diseases or injuries complicating pregnancy, childbirth and the puerperium classified elsewhere: external causes (for mortality) (V, W, X, Y); injury, poisoning and certain other consequences of external cause (S00-T88.1, , T88.6-T98); mental and behavioural disorders associated with the puerperium (F53.-); obstetrical tetanus (A34); postpartum necrosis of pituitary gland (E23.0); puerperal osteomalacia (M83.0); supervision of high-risk pregnancy (Z35.-); supervision of normal pregnancy (Z34.-).
  • O00-O08 - Pregnancy with abortive outcome.
  • O10-O16 - Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium.
  • O20-O29 - Other maternal disorders predominantly related to pregnancy.
  • O30-O48 - Maternal care related to the fetus and amniotic cavity and possible delivery problems.
  • O60-O75 - Complications of labour and delivery.
  • O80-O84 - Delivery.
  • O85-O92 - Complications predominantly related to the puerperium.
  • O94-O99 - Other obstetric conditions, not elsewhere classified.


Links: Chapter XV

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Cite this page: Hill, M.A. (2019, November 15) Embryology International Classification of Diseases - XVII Congenital Malformations. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/International_Classification_of_Diseases_-_XVII_Congenital_Malformations

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© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G