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syndroom van ernstige oculorenocerebellaire afwijkingen (aandoening)
syndroom van ernstige oculorenocerebellaire afwijkingen
ernstig oculorenocerebellair syndroom
Syndroom van Hunter-Jurenka-Thompson
Severe oculo-renal-cerebellar syndrome
ORC (oculo-renal-cerebellar) syndrome
Oculorenocerebellar syndrome
Hunter Jurenka Thompson syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported.
Id1208341008
StatusPrimitive
Clinical courseprogressief
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydegeneratieve afwijking
Finding sitestructuur van retina
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationverhoogd
Interpretsspiertonus
Has interpretationafwezig
InterpretsMovement observable
Has interpretationafwijkend
InterpretsMovement observable
InterpretsMovement
SNOMED CT to Orphanet simple map2715
SNOMED CT to ICD-10 extended map
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