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overgroeisyndroom met translocatie van 2q37 (aandoening)
overgroeisyndroom met translocatie van 2q37
overgroeisyndroom met 2q37-translocatie
Overgrowth syndrome with 2q37 translocation
A rare overgrowth syndrome with characteristics of long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibia and dysmorphic facial features (hypertelorism, high palate, or micrognathia) along with aortic root dilatation and umbilical hernia have also been reported.
Id1169362009
StatusPrimitive
Associated morphologychromosoomtranslocatie
Finding sitechromosomenpaar 2
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map498488
SNOMED CT to ICD-10 extended map
TargetQ87.3
RuleTRUE
AdviceALWAYS Q87.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified