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syndroom van fibuline-1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie (aandoening)
syndroom van fibuline-1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie
syndroom van FBLN1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.
Id774070008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
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