Category: Q87 - Other specified congenital malformation syndromes affecting multiple systems
Chapter Notes
Other specified congenital malformation syndromes affecting multiple systems
Use additional code(s) to identify all associated manifestations
Congenital malformation syndromes predominantly affecting facial appearance
Acrocephalopolysyndactyly
Acrocephalosyndactyly [Apert]
Cryptophthalmos syndrome
Cyclopia
Goldenhar syndrome
Moebius syndrome
Oro-facial-digital syndrome
Robin syndrome
Whistling face
Congenital malformation syndromes predominantly associated with short stature
Ellis-van Creveld syndrome (Q77.6)
Smith-Lemli-Opitz syndrome (E78.72)
Prader-Willi syndrome
Other congenital malformation syndromes predominantly associated with short stature
Aarskog syndrome
Cockayne syndrome
De Lange syndrome
Dubowitz syndrome
Noonan syndrome
Robinow-Silverman-Smith syndrome
Russell-Silver syndrome
Seckel syndrome
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
Congenital malformation syndromes involving early overgrowth
Beckwith-Wiedemann syndrome
Sotos syndrome
Weaver syndrome
Marfan syndrome
Marfan syndrome, unspecified
Marfan syndrome with cardiovascular manifestations
Marfan syndrome with aortic dilation
Marfan syndrome with other cardiovascular manifestations
Marfan syndrome with ocular manifestations
Marfan syndrome with skeletal manifestation
Other congenital malformation syndromes with other skeletal changes
Other specified congenital malformation syndromes, not elsewhere classified
Zellweger syndrome (E71.510)
Alport syndrome
Use additional code to identify stage of chronic kidney disease (N18.1-N18.6)
Arterial tortuosity syndrome
Bardet-Biedl syndrome
Laurence-Moon syndrome
MED13L syndrome
Asadollahi-Rauch syndrome
Mediator complex subunit 13L syndrome
Code also, if applicable, any associated manifestations such as:
autism spectrum disorder (F84.0-)
congenital malformations of cardiac septa (Q21.-)
epilepsy and recurrent seizures (G40.-)
intellectual disability (F70-F79)
Kleefstra syndrome
Hao-Fountain Syndrome
HAFOUS
Use additional code, if applicable, for associated conditions such as:
autism spectrum disorder (F84.0)
developmental speech disorder (F80.-)
epilepsy, by specific type (G40.-)
intellectual disabilities (F70-F79)
pervasive developmental disorders (F84.-)
CTNNB1 syndrome
cerebral palsy (G80.-)
congenital heart malformations (Q20.0-Q24.9)
developmental disorder of speech and language (F80.-)
exudative retinopathy (H35.02-)
microcephaly (Q02)
