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syndroom van macrocefalie, kleine gestalte en paraplegie (aandoening)
syndroom van macrocefalie, kleine gestalte en paraplegie
Volcke-Soekarman-syndroom
syndroom van Volcke-Soekarman
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.
Id722033000
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretshoofdomtrek
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE34.3
TermKleine gestalte, niet elders geclassificeerd
TargetF79.9
TermNiet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen
TargetG80.1
TermSpastische diplegische cerebrale paralyse
TargetQ03.1
TermAtresie van foramina van Magendie en Luschka
TargetQ75.3
TermMacrocefalie
SNOMED CT to Orphanet simple map2427
SNOMED CT to ICD-10 extended map
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