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syndroom van macrosomie, microftalmie en palatoschisis (aandoening)
syndroom van macrosomie, microftalmie en palatoschisis
syndroom van macrosomie, microftalmie en gespleten gehemelte
syndroom van Teebi-Al Saleh-Hassoon
Macrosomia, microphthalmia, cleft palate syndrome
Teebi Al Saleh Hassoon syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.
Id773282001
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitegeheel oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified