Other deletions from the autosomes Notes: Deletion 22q11.2 ; Miller-Dieker syndrome ; Smith-Magenis syndrome ; Deletions identified by fluorescence in situ hybridization (FISH) ; Deletions identified ...
Q77.3 Chondrodysplasia punctata Notes: Rhizomelic chondrodysplasia punctata (E71.43)
Chondrodysplasia punctata Notes: Rhizomelic chondrodysplasia punctata (E71.43)
Q78.9 Osteochondrodysplasia, unspecified Notes: Chondrodystrophy NOS ; Osteodystrophy NOS
Osteochondrodysplasia, unspecified Notes: Chondrodystrophy NOS ; Osteodystrophy NOS
Q79.8 Other congenital malformations of musculoskeletal system Notes: Absence of muscle ; Absence of tendon ; Accessory muscle…
Other congenital malformations of musculoskeletal system Notes: Absence of muscle ; Absence of tendon ; Accessory muscle ; Amyotrophia congenita ; Congenital constricting bands ; Congenital shortening ...
Q82 Other congenital malformations of skin Notes: Congenital diffuse cutaneous mastocytosis ; Congenital maculopapular cutan…
Other congenital malformations of skin Notes: Congenital diffuse cutaneous mastocytosis ; Congenital maculopapular cutaneous mastocytosis ; Congenital urticaria pigmentosa ; Birthmark NOS ; Flammeus N ...
Q83.9 Congenital malformation of breast, unspecified
Congenital malformation of breast, unspecified
Q87.1 Congenital malformation syndromes predominantly associated with short stature Notes: Aarskog syndrome ; Cockayne syndrom…
Congenital malformation syndromes predominantly associated with short stature Notes: Aarskog syndrome ; Cockayne syndrome ; De Lange syndrome ; Dubowitz syndrome ; Noonan syndrome ; Robinow-Silverman- ...