Autosomal dominant hereditary disorder	Brachymesophalangia	Congenital anomaly of bone and joint	Developmental hereditary disorder	Distal interphalangeal joint symphalangism	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with limb defect as major feature
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Brachydactyly and distal symphalangism syndrome (disorder)
	Brachydactyly and distal symphalangism syndrome
	Sillence syndrome
	Syndrome that resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant.
	syndroom van brachydactylie en distaal symfalangisme
	syndroom van Sillence

Id	732956000
Status	Primitive

Associated morphology	Abnormally short growth
Finding site	Entire middle phalanx
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Ankylosis
Finding site	Structure of distal interphalangeal joint
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q74.8
Rule	TRUE
Advice	ALWAYS Q74.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified