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Frank-Ter Haar-syndroom (aandoening)
Frank-Ter Haar-syndroom
syndroom van Frank-Ter Haar
Ter Haar-syndroom
Frank-Ter Haar syndrome
Ter Haar syndrome
Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) has characteristics of megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanelles, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone and congenital heart defects are frequently present.
Id720958002
StatusPrimitive
Associated morphologyvergroting
Finding sitestructuur van cornea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
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