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syndroom van spastische paraplegie en faciocutane laesies (aandoening)
syndroom van spastische paraplegie en faciocutane laesies
Spastic paraplegia, facial cutaneous lesion syndrome
Bahemuka Brown syndrome
A complex form of hereditary spastic paraplegia with characteristics of delay in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.
Id763403007
StatusPrimitive
Clinical courseprogressief
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG82.1
TermHypertone paraplegie
SNOMED CT to Orphanet simple map2819
SNOMED CT to ICD-10 extended map
TargetG82.1
RuleTRUE
AdviceALWAYS G82.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified