gecombineerde brachydactylie type B en E (aandoening)
syndroom van Ballard
gecombineerde brachydactylie type B en E
Ballard syndrome
Pitt Williams brachydactyly
Brachydactyly types B and E combined
Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant.
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q73.8
CorrelationSNOMED CT source code to target map code correlation not specified