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syndroom van spastische paraplegie, nefritis en doofheid (aandoening)
syndroom van spastische paraplegie, nefritis en doofheid
Spastic paraplegia, nephritis, deafness syndrome
Fitzsimmons Walson Mellor syndrome
Syndrome with characteristics of variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. It has been described in six members of a family.
Id733089005
StatusPrimitive
Has interpretationverlaagd
Interpretsgehoorfunctie
Finding sitestructuur van nier
Occurrencecongenitaal
Finding sitestructuur van oor
Occurrencecongenitaal
Clinical courseprogressief
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.4
TermHereditaire spastische paraplegie
TargetN07.9
TermHereditaire nefropathie, niet elders geclassificeerd; niet gespecificeerd
TargetH90.3
TermGehoorverlies door perceptiestoornis, dubbelzijdig
SNOMED CT to Orphanet simple map2820
SNOMED CT to ICD-10 extended map
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetN07.9
RuleTRUE
AdviceALWAYS N07.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.3
RuleTRUE
AdviceALWAYS H90.3
CorrelationSNOMED CT source code to target map code correlation not specified