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syndroom van microcefalie, hartdefect en longmalsegmentatie (aandoening)
syndroom van microcefalie, hartdefect en longmalsegmentatie
syndroom van Ellis-Yale-Winter
Microcephalus with cardiac defect and lung malsegmentation syndrome
Ellis Yale Winter syndrome
Microcephaly with cardiac defect and lung malsegmentation syndrome
A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy.
Id719379001
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van long
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
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