| 'elastin microfibril interfacer 1'-gerelateerde aandoening van bindweefsel (aandoening) | | EMILIN-1-gerelateerde aandoening van bindweefsel | | EMILIN-1-gerelateerde bindweefselziekte
'elastin microfibril interfacer 1'-gerelateerde aandoening van bindweefsel
| | EMILIN-1-related connective tissue disease | | Elastin microfibril interfacer 1 related connective tissue disease
| | A rare hereditary disease with peripheral neuropathy with characteristics of distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility and recurrent tendon ruptures. |
| | Id | 1237511005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 485418 |
| SNOMED CT to ICD-10 extended map | | Target | G60.8 | | Rule | TRUE | | Advice | ALWAYS G60.8 | 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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