brachydactylie type A4 (aandoening)
brachydactylie type A4
brachydactylie type Temtamy
Brachydactyly type A4
Brachydactyly Temtamy type
A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested.
Associated morphologyabnormaal korte groei
Finding sitegehele middenfalanx
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93394
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q73.8
CorrelationSNOMED CT source code to target map code correlation not specified