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ziekte van Huntington-achtig syndroom door read-expansies in 'chromosome 9 open reading frame 72' (aandoening)
ziekte van Huntington-achtig syndroom door read-expansies in 'chromosome 9 open reading frame 72'
ziekte van Huntington-achtig syndroom door read-expansies in C9orf72-gen
Huntington disease-like syndrome due to C9ORF72 expansions
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions
C9ORF72-related Huntington disease phenocopy
A rare genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.
Id782743001
StatusPrimitive
Has interpretationafwijkend
InterpretsMovement observable
InterpretsMovement
SNOMED CT to Orphanet simple map401901
SNOMED CT to ICD-10 extended map
TargetG10
RuleTRUE
AdviceALWAYS G10 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified