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syndroom van kleine gestalte, Pierre Robin-sequentie, gespleten onderkaak, misvormingen van hand en klompvoet (aandoening)
syndroom van kleine gestalte, Pierre Robin-sequentie, gespleten onderkaak, misvormingen van hand en klompvoet
syndroom van Richieri Costa-Pereira
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
Richieri Costa Pereira syndrome
Robin sequence with cleft mandible and limb anomalies syndrome
Syndrome with characteristics of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and highly arched palate was also observed. Transmission is autosomal recessive. There is evidence this syndrome is caused by homozygous or compound heterozygous mutation in the EIF4A3 gene on chromosome 17q25.
Id723998001
StatusPrimitive
Associated morphologyfusiedefect
Finding sitebotstructuur van mandibula
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