Amegakaryocytic thrombocytopenia with congenital malformation	Amegakaryocytic thrombocytopenia with congenital malformation	Autosomal dominant hereditary disorder	Autosomal dominant hereditary disorder	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Hereditary disorder of musculoskeletal system	Inherited platelet disorder	Inherited platelet disorder	Radioulnar synostosis	Radioulnar synostosis
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Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder)
	Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
	ATRUS syndrome
	Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).
	syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie
	ATRUS-syndroom

Id	721882001
Status	Primitive

Has interpretation	Below reference range
Has interpretation	Below reference range
Interprets	Platelet count
Interprets	Platelet count

Associated morphology	Congenital abnormal fusion
Finding site	Bone structure of radius
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Abnormal
Interprets	Hemostatic function

Associated morphology	Congenital abnormal fusion
Finding site	Bone structure of ulna
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.2
Rule	TRUE
Advice	ALWAYS Q87.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified