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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
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.
Id722450007
StatusPrimitive
Associated morphologyafwijkend klein
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2084
SNOMED CT to ICD-10 extended map
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