| 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 very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy and iris hypoplasia. There is evidence this syndrome is caused by heterozygous mutation in the MIR184 gene on chromosome 15q25. |
| | 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 |
|
| SNOMED CT to Orphanet simple map | 293936 |
| SNOMED CT to ICD-10 extended map | | Target | Q15.8 | | Rule | TRUE | | Advice | ALWAYS Q15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
