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syndroom van dysrafie, cheilopalatoschisis en lengtedefect van extremiteit (aandoening)
syndroom van dysrafie, cheilopalatoschisis en lengtedefect van extremiteit
syndroom van dysrafie, gespleten gehemelte met gespleten lip en abnormaal korte lengte van ledemaat
Syndroom van Medeira-Dennis-Donnai
Dysraphism, cleft lip and palate, limb reduction defect syndrome
Medeira Dennis Donnai syndrome
A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.
Id1208338004
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal korte lengte
Finding sitegehele extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map2476
SNOMED CT to ICD-10 extended map
TargetQ00.0
RuleTRUE
AdviceALWAYS Q00.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified