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Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome
Braddock Jones Superneau syndrome
A malformation disorder with characteristics of sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.
syndroom van craniosynostose, Dandy-Walker-malformatie en hydrocefalie
syndroom van Braddock-Jones-Superneau
syndroom van craniosynostose, Dandy-Walker-malformatie en hydrocephalus
Id720813007
StatusPrimitive
Associated morphologyCystic dilatation
Finding siteFourth ventricle structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding siteCerebellar vermis structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital malrotation
Finding siteCerebellar vermis structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCystic dilatation
Finding siteInfratentorial brain 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
TargetQ75.0
RuleTRUE
AdviceALWAYS Q75.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ03.1
RuleTRUE
AdviceALWAYS Q03.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified