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hart-handsyndroom type 1 (aandoening)
Holt-Oram-syndroom
atriodigitale dysplasie type 1
HOS
hart-handsyndroom type 1
holt-oramsyndroom
hart-handsyndroom type 1
HOS
Holt-Oram-syndroom
Erfelijke en aangeboren aandoening gekenmerkt door afwijkingen aan de armen en/of handen in combinatie met hartafwijkingen.
Holt-Oram syndrome
Holt Oram syndrome
Atriodigital dysplasia type 1
Heart-hand syndrome type 1
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1).
Id19092004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van bovenste extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified