X-gebonden endotheliale corneadystrofie (aandoening) | | X-gebonden endotheliale corneadystrofie | | X-gebonden endotheeldystrofie van hoornvlies X-gebonden cornea-endotheeldystrofie
| | X-linked endothelial corneal dystrophy | | X-linked endothelial dystrophy of cornea
| | A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive. |
| Id | 718579008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | H18.5 | Term | Hereditaire corneadystrofieën |
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SNOMED CT to Orphanet simple map | 293621 |
SNOMED CT to ICD-10 extended map | Target | H18.5 | Rule | TRUE | Advice | ALWAYS H18.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
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