Preferred Label : Stickler syndrome;
ICD-11 definition : Stickler syndrome is an inherited vitreoretinopathy characterized by the association
of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders,
and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia,
strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic
uveitis. Bone anomalies include mild platyspondyly and large, often abnormal, epiphyses.
Juvenile joint laxity is followed by early signs of arthrosis.;
Origin ID : 246271691;
Currated CISMeF NLP mapping
- Validated automatic mappings to BTNT
Stickler syndrome is an inherited vitreoretinopathy characterized by the association
of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders,
and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia,
strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic
uveitis. Bone anomalies include mild platyspondyly and large, often abnormal, epiphyses.
Juvenile joint laxity is followed by early signs of arthrosis.
