Autosomal dominant hereditary disorder
Brachymesophalangia
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
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Brachydactyly type A4 (disorder)
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.
brachydactylie type A4
brachydactylie type Temtamy
Id715721005
StatusPrimitive
Associated morphologyAbnormally short growth
Finding siteEntire middle 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