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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 with joint dysplasia
Brachydactyly elbow wrist dysplasia
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with active extension impossible) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
Id764437006
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ellebooggewricht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van gewricht van polsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ71.8
TermOverige gespecificeerde onderontwikkeling van bovenste extremiteit(en)
SNOMED CT to Orphanet simple map1275
SNOMED CT to ICD-10 extended map
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