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Macrocephaly, short stature, paraplegia syndrome (disorder)
Macrocephaly, short stature, paraplegia syndrome
Volcke Soekarman syndrome
This syndrome has characteristics of macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.
syndroom van macrocefalie, kleine gestalte en paraplegie
syndroom van Volcke-Soekarman
Volcke-Soekarman-syndroom
Id722033000
StatusPrimitive
Associated morphologyHypoplasia
Finding siteCerebellar vermis structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital malrotation
Finding siteCerebellar vermis structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCystic dilatation
Finding siteFourth ventricle structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCystic dilatation
Finding siteInfratentorial brain structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbove reference range
InterpretsHead circumference
ICD-10 complex map reference set
TargetQ75.3
RuleTRUE
AdviceALWAYS Q75.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG80.1
RuleTRUE
AdviceALWAYS G80.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified