Congenital malformation syndromes predominantly involving limbs Notes: Holt-Oram syndrome ; Klippel-Trenaunay-Weber syndrome ; Nail patella syndrome ; Rubinstein-Taybi syndrome ; Sirenomelia syndrome ...
Q89.01 Asplenia (congenital)
Asplenia (congenital)
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
Trisomy 18, mosaicism (mitotic nondisjunction)
Q92.8 Other specified trisomies and partial trisomies of autosomes Notes: Duplications identified by fluorescence in situ hybr…
Other specified trisomies and partial trisomies of autosomes Notes: Duplications identified by fluorescence in situ hybridization (FISH) ; Duplications identified by in situ hybridization (ISH) ; Dupl ...
Q77.6 Chondroectodermal dysplasia Notes: Ellis-van Creveld syndrome
Chondroectodermal dysplasia Notes: Ellis-van Creveld syndrome
Q79.1 Other congenital malformations of diaphragm Notes: Absence of diaphragm ; Congenital malformation of diaphragm NOS ; Eve…
Other congenital malformations of diaphragm Notes: Absence of diaphragm ; Congenital malformation of diaphragm NOS ; Eventration of diaphragm
Q80.0 Ichthyosis vulgaris
Ichthyosis vulgaris
Q82.2 Congenital cutaneous mastocytosis Notes: Congenital diffuse cutaneous mastocytosis ; Congenital maculopapular cutaneous …
Congenital cutaneous mastocytosis Notes: Congenital diffuse cutaneous mastocytosis ; Congenital maculopapular cutaneous mastocytosis ; Congenital urticaria pigmentosa ; cutaneous mastocytosis NOS (D47 ...

