Trisomy 21, mosaicism (mitotic nondisjunction)
Q92.5 Duplications with other complex rearrangements Notes: Partial trisomy due to unbalanced translocations
Duplications with other complex rearrangements Notes: Partial trisomy due to unbalanced translocations
Q93.7 Deletions with other complex rearrangements Notes: Deletions due to unbalanced translocations, inversions and insertions
Deletions with other complex rearrangements Notes: Deletions due to unbalanced translocations, inversions and insertions
Q77.1 Thanatophoric short stature
Thanatophoric short stature
Q78.6 Multiple congenital exostoses Notes: Diaphyseal aclasis
Multiple congenital exostoses Notes: Diaphyseal aclasis
Q79.63 Vascular Ehlers-Danlos syndrome Notes: Vascular EDS (vEDS)
Vascular Ehlers-Danlos syndrome Notes: Vascular EDS (vEDS)
Q81.8 Other epidermolysis bullosa
Other epidermolysis bullosa
Q83.8 Other congenital malformations of breast
Other congenital malformations of breast