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syndrome
- Cockayne syndrome
- De Lange syndrome
- Dubowitz syndrome
- Noonan syndrome
- Prader-Willi syndrome
- Robinow-Silverman-Smith syndrome
- Russell-Silver syndrome
- Seckel syndrome
- Smith-Lemli-Opitz syndrome
- Excludes1: Ellis-van Creveld syndrome (Q77.6)
- Q87.2 Congenital malformation syndromes predominantly involving limbs
- Holt-Oram syndrome
- Klippel-Trenaunay-Weber syndrome
- Nail patella syndrome
- Rubinstein-Taybi syndrome
- Sirenomelia syndrome
- Thrombocytopenia with absent radius [TAR] syndrome
- VATER syndrome
- Q87.3 Congenital malformation syndromes involving early overgrowth
- Beckwith-Wiedemann syndrome
- Sotos syndrome
- Weaver syndrome
- Q87.4 Marfan's syndrome
- Q87.40 Marfan's syndrome, unspecified
- Q87.41 Marfan's syndrome with cardiovascular manifestations
- Q87.410 Marfan's syndrome with aortic dilation
- Q87.418 Marfan's syndrome with other cardiovascular manifestations
- Q87.42 Marfan's syndrome with ocular manifestations
- Q87.43 Marfan's syndrome with skeletal manifestation
- Q87.5 Other congenital malformation syndromes with other skeletal changes
- Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
- Excludes1: Zellweger syndrome (E71.510)
- Q87.81 Alport syndrome
- Use additional code to identify stage of chronic kidney disease (N18.1-N18.6)
- Q87.89 Other specified congenital malformation syndromes, not elsewhere classified
- Laurence-Moon (-Bardet)-Biedl syndrome
Q89 Other congenital malformations, not elsewhere classified
- Q89.
