Congenital alopecia Notes: Congenital atrichosis
Q85.1 Tuberous sclerosis Notes: Bourneville’s disease ; Epiloia
Tuberous sclerosis Notes: Bourneville's disease ; Epiloia
Q87.19 Other congenital malformation syndromes predominantly associated with short stature Notes: Aarskog syndrome ; Cockayne s…
Other congenital malformation syndromes predominantly associated with short stature Notes: Aarskog syndrome ; Cockayne syndrome ; De Lange syndrome ; Dubowitz syndrome ; Noonan syndrome ; Robinow-Silv ...
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