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Brachydactyly elbow wrist dysplasia (disorder)
Liebenberg syndrome
Brachydactyly with joint dysplasia
Brachydactyly elbow wrist 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.
syndroom van brachydactylie, elleboogdysplasie en polsdysplasie
syndroom van brachydactylie en gewrichtsdysplasie
syndroom van Liebenberg
Liebenberg-syndroom
Id764437006
StatusPrimitive
Associated morphologyAbnormally short growth
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteElbow joint structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteJoint structure of wrist region
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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