| syndroom van congenitale hereditaire endotheeldystrofie en perceptief gehoorverlies (aandoening) | | syndroom van congenitale hereditaire endotheeldystrofie en perceptief gehoorverlies | | corneadystrofie met progressieve doofheid
| | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome | | Harboyan syndrome
Corneal dystrophy and perceptive deafness syndrome
Corneal dystrophy with progressive deafness
| | A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. |
| | Id | 720749004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H18.5 | | Term | Hereditaire corneadystrofieën |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 1490 |
| SNOMED CT to ICD-10 extended map | | Target | H18.5 | | Rule | TRUE | | Advice | ALWAYS H18.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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