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syndroom van persisterende ductus arteriosus, bicuspide aortaklep en misvorming van hand (aandoening)
syndroom van persisterende ductus arteriosus, bicuspide aortaklep en misvorming van hand
syndroom van persisterende ductus arteriosus Botalli, bicuspidale aortaklep en misvorming van hand
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome
A very rare heart-hand syndrome that has characteristics of a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant although X-linked dominance could not be excluded.
Id722211006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.2
TermCongenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten
SNOMED CT to Orphanet simple map228190
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified