Klinefelter syndrome

Description

Klinefelter syndrome defines a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype. The effects on physical features and on physical and cognitive development increase with the number of extra X's, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15-16 points, with language most affected, particularly expressive language skills.

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Child codes

LD50.30 – Klinefelter syndrome with karyotype 47,XXY, regular
LD50.31 – Klinefelter syndrome, male with more than two X chromosomes
LD50.3Y – Other specified Klinefelter syndrome
LD50.3Z – Klinefelter syndrome, unspecified

Sibling codes

LD50.0 – Turner syndrome
LD50.1 – Karyotype 47,XXX
LD50.2 – Mosaicism, lines with various numbers of X chromosomes
LD50.Y – Other specified number anomalies of chromosome X
LD50.Z – Number anomalies of chromosome X, unspecified

Foundation entity

Klinefelter syndrome – http://id.who.int/icd/entity/1937385304

Part of: LD50: Number anomalies of chromosome X › 20: Developmental anomalies