Autosomal dominant hereditary disorder
Brachydactyly
Developmental hereditary disorder
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Brachydactyly type A5 (disorder)
Brachydactyly type A5
A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.
brachydactylie type A5
Id720570007
StatusPrimitive
Associated morphologyAbnormally short growth
Finding siteEntire digit
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ73.8
RuleTRUE
AdviceALWAYS Q73.8
CorrelationSNOMED CT source code to target map code correlation not specified