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Robin sequence and oligodactyly syndrome (disorder)
Robin sequence and oligodactyly syndrome
Pierre Robin sequence, oligodactyly syndrome
A rare genetic developmental defect during embryogenesis syndrome with characteristics of Robin sequence (severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.
syndroom van oligodactylie en sequentie van Robin
syndroom van Robin-sequentie en oligodactylie
syndroom van micrognathie, gespleten gehemelte, glossoptose en oligodactylie
Pierre Robin-syndroom en oligodactylie
syndroom van micrognathie, palatoschisis, glossoptosis en oligodactylie
syndroom van Pierre Robin-sequentie en oligodactylie
Id770681000
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbsence
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified