autosomaal dominante hereditaire aandoening	congenitale amegakaryocytaire trombocytopenie met congenitale afwijking	congenitale radio-ulnaire synostose	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van trombocyt	hereditaire ontwikkelingsstoornis
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syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie (aandoening)
	syndroom van radio-ulnaire synostose en amegakaryocytaire trombocytopenie
	ATRUS-syndroom
	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).

Id	721882001
Status	Primitive

Has interpretation	onder referentiebereik
Interprets	Platelet count

Associated morphology	Abnormally fused structure
Finding site	botstructuur van ulna
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	afwijkend
Interprets	hemostase

Associated morphology	Abnormally fused structure
Finding site	botstructuur van radius
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.2
Term	Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten

SNOMED CT to Orphanet simple map

71289

SNOMED CT to ICD-10 extended map

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