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syndroom van piebaldisme en neurologische uitval (aandoening)
syndroom van piebaldisme en neurologische uitval
syndroom van Telfer-Sugar-Jaeger
Piebald trait with neurologic defects syndrome
Telfer Sugar Jaeger syndrome
A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.
Id773984007
StatusPrimitive
Associated morphologyhypopigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
SNOMED CT to Orphanet simple map2885
SNOMED CT to ICD-10 extended map
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified