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syndroom van therapieresistente diarree met choanale atresie en afwijking van oog (aandoening)
syndroom van therapieresistente diarree met choanale atresie en afwijking van oog
Intractable diarrhea with choanal atresia and eye anomaly syndrome
This syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.
Id720009004
StatusPrimitive
Associated morphologyatresie
Finding sitestructuur van choana
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical coursechronisch
Has interpretationgewijzigd
Interpretsdefecatiepatroon
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