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syndroom van cheilopalatoschisis, intestinale malrotatie en hartziekte (aandoening)
syndroom van cheilopalatoschisis, intestinale malrotatie en hartziekte
syndroom van cheilopalatoschisis, intestinale malrotatie en hartaandoening
syndroom van gespleten gehemelte en gespleten lip, intestinale malrotatie en hartafwijking
syndroom van McPherson-Clemens
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome
McPherson Clemens syndrome
A multiple congenital anomaly syndrome described in 5 patients to date. Characteristics include flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects, which were lethal in 3 of the 5 patients. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.
Id719456001
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van labium oris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale malrotatie
Finding sitestructuur van intestinum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitebotstructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified