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syndroom van atrioventriculairseptumdefect, blefarofimose, radiaal en anaal defect (aandoening)
syndroom van atrioventriculairseptumdefect, blefarofimose, radiaal en anaal defect
syndroom van AVSD, blefarofimose, radiaal en anaal defect
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome
Houlston Ironton Temple syndrome
A rare genetic multiple congenital anomaly syndrome with characteristics of atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly placed anus, rectovaginal fistula) defects.
Id763066009
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van anus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified