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Wormian bones, micrognathia, abnormal dentition, progeroid syndrome (disorder)
Wormian bones, micrognathia, abnormal dentition, progeroid syndrome
Marbach Rustad progeroid syndrome
LEMD2 gene associated nuclear envelopathy with early progeroid appearance
A rare multiple congenital anomalies/dysmorphic syndrome characterized by progeroid appearance (with triangular face, prominent eyes, crooked nose, septum deviation, micrognathia, dental crowding, supernumerary teeth and delayed dentition), microcephaly, skeletal features including wormian bones and hypoplastic clavicles, generalized lipoatrophy, thin skin, prominent veins and intention tremor. Additional clinical features may include developmental delay, short stature and low bone density.
Id1388881006
StatusPrimitive
Associated morphologyhypoplasie
Finding sitebotstructuur van mandibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding sitestructuur van huid
SNOMED CT to ICD-10 extended map
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified