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syndroom van ernstige verstandelijke beperking en hypoplasie van digitus I en hallux (aandoening)
syndroom van ernstige verstandelijke beperking en hypoplasie van digitus I en hallux
syndroom van ernstige mentale retardatie en hypoplasie van duim en hallux
syndroom van ernstige verstandelijke beperking en hypoplasie van duim en hallux
syndroom van Temple-Baraitser
Temple Baraitser syndrome
Severe intellectual disability, hypoplasia of thumb and hallux syndrome
A rare developmental anomaly syndrome with characteristics of severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.
Id725140007
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van digitus van voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van digitus I van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified