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syndroom van branchiale dysplasie, verstandelijke beperking en hernia inguinalis (aandoening)
syndroom van branchiale dysplasie, verstandelijke beperking en hernia inguinalis
syndroom van Lambert
syndroom van branchiale dysplasie, mentale retardatie en hernia inguinalis
syndroom van branchiale dysplasie, verstandelijke handicap en hernia inguinalis
Branchial dysplasia, intellectual disability, inguinal hernia syndrome
Lambert syndrome
A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.
Id732961003
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van arcus pharyngeus
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