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Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
A developmental anomaly with characteristics as birth of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
syndroom van aortabooganomalie, faciale dysmorfie en verstandelijke beperking
syndroom van aortabooganomalie, faciale dysmorfie en mentale retardatie
syndroom van aortabooganomalie, faciale dysmorfie en verstandelijke handicap
Id763615003
StatusPrimitive
Associated morphologyTransposition, right
Finding siteAortic arch structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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