familiaire persisterende ductus arteriosus (aandoening) | | familiaire persisterende ductus arteriosus | | familiaire open ductus arteriosus Botalli familiaire ductus arteriosus apertus familiaire PDA familiaire open ductus Botalli
| | Familial patent arterial duct | | Familial PDA (patent ductus arteriosus)
| | A rare genetic non-syndromic congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. |
| Id | 1179298002 | Status | Primitive |
SNOMED CT to Orphanet simple map | 466729 |
SNOMED CT to ICD-10 extended map | Target | Q25.0 | Rule | TRUE | Advice | ALWAYS Q25.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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