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SIX homeobox 2-gerelateerde frontonasale dysplasie (aandoening)
SIX homeobox 2-gerelateerde frontonasale dysplasie
SIX2-gerelateerde frontonasale dysplasie
SIX2-related frontonasal dysplasia
SIX homeobox 2-related frontonasal dysplasia
A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.
Id1172632008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map488437
SNOMED CT to ICD-10 extended map
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified