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doofheid-lymfoedeem-leukemiesyndroom (aandoening)
doofheid-lymfoedeem-leukemiesyndroom
syndroom van Emberger
syndroom met doofheid, lymfoedeem en leukemie
Emberger-syndroom
Emberger syndrome
Deafness - lymphedema - leukemia syndrome
A rare genetic disease with characteristics of the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing.
Id700057001
StatusPrimitive
Associated morphologylymfoedeem
Finding sitestructuur van extremiteit
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map3226
SNOMED CT to ICD-10 extended map
TargetD46.7
RuleTRUE
AdviceALWAYS D46.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified