| 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. |
| | 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 |
|
|
