Mosaicism, 45, X, 46, XX or XY

Description

A disease caused by embryonic fusion, or by the loss of one of the sex chromosomes from a cell early in embryonic development; Gonadal status: normal or variable abnormalities of sexual anatomy, maturation or function. Phenotype: normal, or abnormal sexual development.

Index terms

Mosaicism, 45, X, 46, XX or XY
Mosaicism 45, x; 46, xx
Mosaicism 45, x; 46, xy

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45, x/46, xy mosaicism

Exclusions from above levels

LD2F.15 – Noonan syndrome
http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD50.00 – Karyotype 45, X
LD50.01 – Karyotype 46, X iso Xq
LD50.02 – Karyotype 46, X with abnormal sex chromosome, except iso Xq
LD50.04 – Mosaicism, 45, X or other cell line with abnormal sex chromosome

Foundation entity

Mosaicism, 45, X, 46, XX or XY – http://id.who.int/icd/entity/1897256597

Part of: LD50.0: Turner syndrome › LD50: Number anomalies of chromosome X › 20: Developmental anomalies