syndroom van primaire ciliaire dyskinesie en retinitis pigmentosa (aandoening) | | syndroom van primaire ciliaire dyskinesie en retinitis pigmentosa | | primaire ciliaire dyskinesie-retinitis pigmentosa-syndroom
| | Primary ciliary dyskinesia and retinitis pigmentosa syndrome | | Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. |
| Id | 719282008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q34.8 | Term | Overige gespecificeerde congenitale misvormingen van ademhalingsstelsel |
Target | H35.5 | Term | Hereditaire retinadystrofie |
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SNOMED CT to Orphanet simple map | 247522 |
SNOMED CT to ICD-10 extended map | Target | Q34.8 | Rule | TRUE | Advice | ALWAYS Q34.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H35.5 | Rule | TRUE | Advice | ALWAYS H35.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
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