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syndroom van cryptorchisme, arachnodactylie en verstandelijke beperking (aandoening)
syndroom van cryptorchisme, arachnodactylie en verstandelijke beperking
syndroom van Van Benthem-Driessen-Haneveld
syndroom van niet-ingedaalde testis, spinnenkopvingers en cognitieve beperking
Van Benthem-Driessen-Haneveld-syndroom
Cryptorchidism, arachnodactyly, intellectual disability syndrome
Van Benthem Driessen Hanveld syndrome
A rare multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.
Id764950001
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