| syndroom van hoge myopie, gegeneraliseerde laxiteit van gewrichten en kleine gestalte (aandoening) | | syndroom van hoge myopie, gegeneraliseerde laxiteit van gewrichten en kleine gestalte | | syndroom van myopia gravior, laxiteit van alle gewrichten en dwerggroei
| | Severe myopia, generalized joint laxity, short stature syndrome | | A rare developmental defect with connective tissue involvement and characteristics of joint hyperextensibility and multiple dislocations of large joints, severe myopia and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus and progressive hearing loss. |
| | Id | 1217372003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 527450 |
| 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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