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syndroom van korte rib en polydactylie type I (aandoening)
syndroom van korte rib en polydactylie type I
syndroom van korte rib en polydactylie type Saldino-Noonan
Short rib polydactyly syndrome Saldino Noonan type
Short rib polydactyly syndrome type I
Saldino Noonan syndrome
Short rib polydactyly syndrome type 1
An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (flipper-like extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems.
Id726032008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van costa
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitegehele extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.2
RuleTRUE
AdviceALWAYS Q77.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ69.9
RuleTRUE
AdviceALWAYS Q69.9
CorrelationSNOMED CT source code to target map code correlation not specified