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atelosteogenese type 3 (aandoening)
atelosteogenese type 3
atelosteogenesis type 3
Atelosteogenesis type 3
Atelosteogenesis type III
A skeletal dysplasia with characteristics of short limbs, dysmorphic facies and diagnostic radiographic findings. Less than 25 affected patients have been reported. Atelosteogenesis III results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, 13 and 27-33 resulting in the translation of filamin B protein with altered biochemical properties
Id725142004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified