brachydactylie type A1 (aandoening)
brachydactylie type A1
brachydactylie type Farabee
Brachydactyly type A1
Brachydactyly Farabee type
A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.
Associated morphologyabnormaal korte groei
Finding sitegehele falanx
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93388
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q73.8
CorrelationSNOMED CT source code to target map code correlation not specified