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interstitiële longziekte door deficiëntie van surfactant-eiwit C (aandoening)
interstitiële longziekte door deficiëntie van surfactant-eiwit C
interstitiële longaandoening door surfactanseiwit C-deficiëntie
interstitiële longziekte door deficiëntie van SP-C
Interstitial lung disease due to surfactant protein C deficiency
Interstitial lung disease due to SP-C (surfactant protein C) deficiency
A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.
Id1222677008
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetJ84.8
TermOverige gespecificeerde interstitiële longziekten
SNOMED CT to Orphanet simple map440392
SNOMED CT to ICD-10 extended map
TargetJ84.8
RuleTRUE
AdviceALWAYS J84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified