|||||||
syndroom van glaucoom, ectopia lentis, microsferofakie, stijve gewrichten en kleine gestalte (aandoening)
syndroom van glaucoom, ectopia lentis, microsferofakie, stijve gewrichten en kleine gestalte
GEMSS-syndroom
GEMSS syndrome
GEMSS (glaucoma, ectopia, microspherophakia, stiff joint, short stature) syndrome
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome
Syndrome with characteristics of progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome.
Id722450007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified