hereditair defect van mucociliaire klaring	hereditaire ontwikkelingsstoornis	X-gebonden hereditaire recessieve aandoening	X-gebonden retinitis pigmentosa
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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
	An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss.

Id	719282008
Status	Primitive

Associated morphology	dystrofie
Finding site	structuur van retina
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	mucociliaire klaring

Associated morphology	morfologische afwijking
Finding site	structuur van tractus respiratorius
Pathological process	proces van pathologische ontwikkeling

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

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