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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.
Id719282008
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsmucociliaire klaring
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ34.8
TermOverige gespecificeerde congenitale misvormingen van ademhalingsstelsel
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map247522
SNOMED CT to ICD-10 extended map
TargetQ34.8
RuleTRUE
AdviceALWAYS Q34.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified