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syndroom van brachydactylie, elleboogdysplasie en polsdysplasie (aandoening)
syndroom van brachydactylie, elleboogdysplasie en polsdysplasie
syndroom van brachydactylie en gewrichtsdysplasie
syndroom van Liebenberg
Liebenberg-syndroom
Liebenberg syndrome
Brachydactyly elbow wrist dysplasia
Brachydactyly with joint dysplasia
Syndrome with abnormal development of the arms resulting in characteristic arm malformations that can vary in severity. Bones in the elbows are abnormally shaped which affects mobility of the joints. Wrist bones are fused forming structures that resemble those in the ankles and heels and causing permanent radial deviation. The metacarpals are longer than normal along with brachydactyly. Life expectancy is normal. The syndrome is caused by genetic changes near the PITX1 gene. Inherited in an autosomal dominant pattern.
Id764437006
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van gewricht van polsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van articulatio cubiti
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ71.8
RuleTRUE
AdviceALWAYS Q71.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified