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
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 ...
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified Notes: Beaded hair ; Monilethrix ; Pili annulati…
Congenital morphological disturbances of hair, not elsewhere classified Notes: Beaded hair ; Monilethrix ; Pili annulati ; Menkes' kinky hair syndrome (E83.0)
Q85.81 PTEN tumor syndrome Notes: PHTS ; PTEN hamartoma tumor syndrome ; PTEN related Cowden syndrome
PTEN tumor syndrome Notes: PHTS ; PTEN hamartoma tumor syndrome ; PTEN related Cowden syndrome