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syndroom van kleine gestalte, uniek aangezicht, hypoplasie van tandglazuur, progressieve stijfheid van gewrichten en hoog stemgeluid (aandoening)
syndroom van kleine gestalte, uniek aangezicht, hypoplasie van tandglazuur, progressieve stijfheid van gewrichten en hoog stemgeluid
PPT-syndroom
syndroom van Pfeiffer-Palm-Teller
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
Pfeiffer Palm Teller syndrome
PPT (Pfeiffer Palm Teller) syndrome
A very rare dysmorphic syndrome described in two siblings. The syndrome has characteristics of short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears and narrow palpebral fissures with epicanthal folds and intellectual deficit.
Id726672000
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van enamelum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified