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interstitiële longziekte door deficiëntie van ATP-bindende cassette subfamilie 3A (aandoening)
interstitiële longziekte door deficiëntie van ATP-bindende cassette subfamilie 3A
interstitiële longziekte door ABCA3-deficiëntie
interstitiële longaandoening door deficiëntie van ABC subfamilie 3A
Interstitial lung disease due to ABCA3 deficiency
Interstitial lung disease due to ABCA3 (ATP-binding cassette subfamily A member 3) deficiency
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.
Id1222678003
StatusPrimitive
SNOMED CT to Orphanet simple map440402
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