syndroom van microcornea, kegel-staafdystrofie, cataract en staphyloma posterius (aandoening) | | syndroom van microcornea, kegel-staafdystrofie, cataract en staphyloma posterius | | Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome | | MRCS syndrome MRCS (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome
| | MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. |
| Id | 771342004 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 263347 |
SNOMED CT to ICD-10 extended map | Target | H35.5 | Rule | TRUE | Advice | ALWAYS H35.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q13.4 | Rule | TRUE | Advice | ALWAYS Q13.4 | MAPPED FOLLOWING WHO GUIDANCE | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H26.9 | Rule | TRUE | Advice | ALWAYS H26.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H15.8 | Rule | TRUE | Advice | ALWAYS H15.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
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