oculair albinisme met laat optredende sensorineurale doofheid (aandoening) | | oculair albinisme met laat optredende sensorineurale doofheid | | Ocular albinism with late-onset sensorineural deafness | | Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. |
| Id | 722054007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | H90.5 | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
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SNOMED CT to Orphanet simple map | 1000 |
SNOMED CT to ICD-10 extended map | Target | E70.3 | Rule | TRUE | Advice | ALWAYS E70.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H90.5 | Rule | TRUE | Advice | ALWAYS H90.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
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