Autosomal dominant hereditary disorder
Brachyphalangia
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
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Brachydactyly type A1 (disorder)
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.
brachydactylie type A1
brachydactylie type Farabee
Id715720006
StatusPrimitive
Associated morphologyAbnormally short growth
Finding siteEntire phalanx
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