Developmental hereditary disorder
Inherited mucociliary clearance defect
X-linked recessive hereditary disease
X-linked retinitis pigmentosa
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Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
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.
syndroom van primaire ciliaire dyskinesie en retinitis pigmentosa
primaire ciliaire dyskinesie-retinitis pigmentosa-syndroom
Id719282008
StatusPrimitive
Associated morphologyDystrophy
Finding siteRetinal structure
Pathological processPathological developmental process
Associated morphologyDefect
Finding siteRespiratory tract structure
Has interpretationImpaired
InterpretsMucociliary clearance
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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