Balanced sex/autosomal rearrangement in abnormal individual
Q95.5 Individual with autosomal fragile site
Individual with autosomal fragile site
Q97.8 Other specified sex chromosome abnormalities, female phenotype
Other specified sex chromosome abnormalities, female phenotype
Q83.0 Congenital absence of breast with absent nipple
Congenital absence of breast with absent nipple
Q85 Phakomatoses, not elsewhere classified Notes: Von Recklinghausen disease ; Acoustic neurofibromatosis ; Bourneville’s di…
Phakomatoses, not elsewhere classified Notes: Von Recklinghausen disease ; Acoustic neurofibromatosis ; Bourneville's disease ; Epiloia ; PHTS ; PTEN hamartoma tumor syndrome ; PTEN related Cowden syn ...
Q86.1 Fetal hydantoin syndrome Notes: Meadow’s syndrome
Fetal hydantoin syndrome Notes: Meadow's syndrome
Q87.43 Marfan’s syndrome with skeletal manifestation
Marfan's syndrome with skeletal manifestation