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syndrooom van Pierre Robin-sequentie en faciodigitale anomalie (aandoening)
syndrooom van Pierre Robin-sequentie en faciodigitale anomalie
syndroom van Pierre Robin en faciodigitale anomalie
syndroom van Chitayat-Meunier-Hodgkinson
Pierre Robin sequence faciodigital anomaly syndrome
Chitayat Meunier Hodgkinson syndrome
Pierre Robin sequence with facial and digital anomalies
The association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis), facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyper convex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development are normal. It has been described in two half brothers born to the same mother. Transmission appears to be X-linked recessive.
Id723461007
StatusPrimitive
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