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syndroom van cheilopalatoschisis, intestinale malrotatie en hartziekte (aandoening)
syndroom van cheilopalatoschisis, intestinale malrotatie en hartziekte
syndroom van McPherson-Clemens
syndroom van cheilopalatoschisis, intestinale malrotatie en hartaandoening
syndroom van gespleten gehemelte en gespleten lip, intestinale malrotatie en hartafwijking
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome
McPherson Clemens syndrome
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.
Id719456001
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale malrotatie
Finding sitestructuur van intestinum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2001
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified