International Classification of Diseases

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.

Links: International Classification of Diseases | Abnormal Development | Reports

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
  • 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

Links: Neural System - Abnormalities | Q00-Q07

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

• Q10 Congenital malformations of eyelid, lacrimal apparatus and orbit
• 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
• Q16 Congenital malformations of ear causing impairment of hearing
• Q17 Other congenital malformations of ear
• Q18 Other congenital malformations of face and neck

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

Congenital malformations of the circulatory system

• Q20 Congenital malformations of cardiac chambers and connections
• Q21 Congenital malformations of cardiac septa
• Q22 Congenital malformations of pulmonary and tricuspid valves
• Q23 Congenital malformations of aortic and mitral valves
• Q24 Other congenital malformations of heart
• Q25 Congenital malformations of great arteries
  • Q25.0 Patent ductus arteriosus
• Q26 Congenital malformations of great veins
• Q27 Other congenital malformations of peripheral vascular system
  • Q27.0 Congenital absence and hypoplasia of umbilical artery
• Q28 Other congenital malformations of circulatory system

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

Congenital malformations of the respiratory system

• Q30 Congenital malformations of nose
• Q31 Congenital malformations of larynx
• Q32 Congenital malformations of trachea and bronchus
• 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 Cleft palate
• Q36 Cleft lip
• Q37 Cleft palate with cleft lip

Links: Q35-Q37 - Cleft lip and cleft palate.

Other congenital malformations of the digestive system

• Q38 Other congenital malformations of tongue, mouth and pharynx
• Q39 Congenital malformations of oesophagus
• Q40 Other congenital malformations of upper alimentary tract
• Q41 Congenital absence, atresia and stenosis of small intestine
• Q42 Congenital absence, atresia and stenosis of large intestine
• Q43 Other congenital malformations of intestine
  • Q43.0 Meckel's diverticulum
  • Q43.1 Hirschsprung's disease
• Q44 Congenital malformations of gallbladder, bile ducts and liver
• Q45 Other congenital malformations of digestive system

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

Congenital malformations of genital organs

• 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; Excludes epispadias (Q64.0)
• Q55 Other congenital malformations of male genital organs
• Q56 Indeterminate sex and pseudohermaphroditism

Links: Q50-Q56 - Congenital malformations of genital organs.

Congenital malformations of the urinary system

• Q60 Renal agenesis and other reduction defects of kidney
• Q61 Cystic kidney disease
• Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
• Q63 Other congenital malformations of kidney
• 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
• Q66 Congenital deformities of feet
• Q67 Congenital musculoskeletal deformities of head, face, spine and chest
• Q68 Other congenital musculoskeletal deformities
• 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)
• Q75 Other congenital malformations of skull and face bones
• Q76 Congenital malformations of spine and bony thorax
• Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
• Q78 Other osteochondrodysplasias
• Q79 Congenital malformations of the musculoskeletal system, not elsewhere classified

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
  • 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

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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• World Health Organization International Classification of Diseases-10

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Cite this page: Hill, M.A. (2024, June 26) Embryology International Classification of Diseases. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/International_Classification_of_Diseases

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