Neurofibromatosis, type 2 Notes: Acoustic neurofibromatosis
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance Notes: Acrocephalopolysyndactyly ; Acrocepha…
Congenital malformation syndromes predominantly affecting facial appearance Notes: Acrocephalopolysyndactyly ; Acrocephalosyndactyly ; Cryptophthalmos syndrome ; Cyclopia ; Goldenhar syndrome ; Moebi ...
Q87.82 Arterial tortuosity syndrome
Arterial tortuosity syndrome
Q90.2 Trisomy 21, translocation
Trisomy 21, translocation
Q92.6 Marker chromosomes Notes: Trisomies due to dicentrics ; Trisomies due to extra rings ; Trisomies due to isochromosomes ;…
Marker chromosomes Notes: Trisomies due to dicentrics ; Trisomies due to extra rings ; Trisomies due to isochromosomes ; Individual with marker heterochromatin
Q93.8 Other deletions from the autosomes Notes: Deletion 22q11.2 ; Miller-Dieker syndrome ; Smith-Magenis syndrome ; Deletions…
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 ...
Q77.2 Short rib syndrome Notes: Asphyxiating thoracic dysplasia [Jeune]
Short rib syndrome Notes: Asphyxiating thoracic dysplasia
Q78.9 Osteochondrodysplasia, unspecified Notes: Chondrodystrophy NOS ; Osteodystrophy NOS
Osteochondrodysplasia, unspecified Notes: Chondrodystrophy NOS ; Osteodystrophy NOS