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familial nasal acilia (aandoening)
familial nasal acilia
familiaire afwezigheid van neustrilharen
familiaire nasale afwezigheid van cilia
Familial nasal acilia
A rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.
Id763532008
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ30.8
TermOverige gespecificeerde congenitale misvormingen van neus
SNOMED CT to Orphanet simple map922
SNOMED CT to ICD-10 extended map
TargetQ30.8
RuleTRUE
AdviceALWAYS Q30.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified