Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | | 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. | | syndroom van endotheeldystrofie, irishypoplasie, congenitaal cataract en stromale verdunning | | syndroom van endotheeldystrofie, hypoplasie van iris, congenitaal cataract en keratoconus familiaire keratoconus met cataract
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| Id | 722439009 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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 |
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