syndroom van endotheeldystrofie, irishypoplasie, congenitaal cataract en stromale verdunning (aandoening) | | syndroom van endotheeldystrofie, irishypoplasie, congenitaal cataract en stromale verdunning | | syndroom van endotheeldystrofie, hypoplasie van iris, congenitaal cataract en keratoconus familiaire keratoconus met cataract
| | EDICT syndrome | | Familial keratoconus with cataract Autosomal dominant keratoconus with early-onset anterior polar cataract Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome
| | A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. |
| Id | 722439009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q15.8 | Term | Overige gespecificeerde congenitale misvormingen van oog |
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SNOMED CT to Orphanet simple map | 293936 |
SNOMED CT to ICD-10 extended map | Target | H18.6 | Rule | TRUE | Advice | ALWAYS H18.6 | 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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