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syndroom van cheilopalatoschisis, faciale dysmorfie en afwijkingen aan oog, hart en darmen (aandoening)
syndroom van cheilopalatoschisis, faciale dysmorfie en afwijkingen aan oog, hart en darmen
syndroom van Kapur-Toriello
Kapur Toriello syndrome
An extremely rare syndrome with characteristics of facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Only four cases have been reported in the literature, in three unrelated families. Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies. The condition seems to be inherited as an autosomal recessive trait.
Id722031003
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van subregio van hoofd
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified