ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

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International Statistical Classification of Diseases and Related Health Problems 10th Revision
Chapter Blocks Title
I A00–B99 Certain infectious and parasitic diseases
II C00–D48 Neoplasms
III D50–D89 Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
IV E00–E90 Endocrine, nutritional and metabolic diseases
V F00–F99 Mental and behavioural disorders
VI G00–G99 Diseases of the nervous system
VII H00–H59 Diseases of the eye and adnexa
VIII H60–H95 Diseases of the ear and mastoid process
IX I00–I99 Diseases of the circulatory system
X J00–J99 Diseases of the respiratory system
XI K00–K93 Diseases of the digestive system
XII L00–L99 Diseases of the skin and subcutaneous tissue
XIII M00–M99 Diseases of the musculoskeletal system and connective tissue
XIV N00–N99 Diseases of the genitourinary system
XV O00–O99 Pregnancy, childbirth and the puerperium
XVI P00–P96 Certain conditions originating in the perinatal period
XVII Q00–Q99 Congenital malformations, deformations and chromosomal abnormalities
XVIII R00–R99 Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified
XIX S00–T98 Injury, poisoning and certain other consequences of external causes
XX V01–Y98 External causes of morbidity and mortality
XXI Z00–Z99 Factors influencing health status and contact with health services
XXII U00–U99 Codes for special purposes
The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO).[1] This page contains ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities.

Q00–Q89 – Congenital malformations and deformations

(Q00–Q07) nervous system

(Q10–Q18) eye, ear, face and neck

Eye

Ear

Other face and neck

(Q20–Q28) circulatory system

(Q30–Q34) respiratory system

(Q35–Q45) digestive system

(Q50–Q56) genital organs

(Q60–Q64) urinary system

(Q65–Q79) musculoskeletal system

(Q80–Q89) Other

Q90–Q99 – 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
  • (Q91) Trisomy 18 and Trisomy 13
    • (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
    • Trisomy 9
    • Warkany syndrome 2
    • (Q92.0) Whole chromosome trisomy, meiotic nondisjunction
    • (Q92.1) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
    • (Q92.2) Major partial trisomy
    • (Q92.3) Minor partial trisomy
    • (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
  • (Q95) Balanced rearrangements and structural markers, not elsewhere classified
    • 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 syndrome
    • (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
    • (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 – XX male syndrome
    • (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
    • (Q99.1) 46,XX true hermaphrodite
      • 46,XX with streak gonads
      • 46,XY with streak gonads
      • Pure gonadal dysgenesis
    • (Q99.2) Fragile X chromosome
    • (Q99.8) Other specified chromosome abnormalities
    • (Q99.9) Chromosomal abnormality, unspecified

See also

References

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