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. |
| Id | 722450007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 2084 |
SNOMED CT to ICD-10 extended map | Target | Q87.1 | Rule | TRUE | Advice | ALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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