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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
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.
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
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2427
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified