| syndroom van oftalmoplegie, verstandelijke beperking en lingua fissurata (aandoening) | | syndroom van oftalmoplegie, verstandelijke beperking en lingua fissurata | | syndroom van oftalmoplegie, verstandelijke handicap en fissuurtong
syndroom van oftalmoplegie, mentale retardatie en lingua scrotalis
Levic-Stefanovic-Nikolic-syndroom
| | Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome | | Levic Stefanovic Nikolic syndrome
| | A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. |
| | Id | 782945001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 2743 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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