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syndroom van hypoplasie van ulna en verstandelijke beperking (aandoening)
syndroom van hypoplasie van ulna en verstandelijke beperking
syndroom van hypoplasie van ulna en verstandelijke handicap
syndroom van hypoplasie van ulna en mentale retardatie
Congenital hypoplasia of ulna and intellectual disability syndrome
Ulna hypoplasia with intellectual disability syndrome
A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor.
Id719842006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitebotstructuur van ulna
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified